MitoAction Expert Series

Understanding TK2d and the KYGEVVI Approval

MitoAction — Wed, 28 Jan 2026 15:44:47 +0000

Join us for an informative webinar exploring KYGEVVI™ (doxecitine and doxribtimine), the first FDA-approved treatment for thymidine kinase 2 deficiency (TK2d) in adults and pediatric patients with an age of symptom onset on or before 12 years.

This session will cover:

The basics of TK2d, including its genetic cause, symptoms, and how it is diagnosed
The impact of TK2d on patients and families
An overview of KYGEVVI, including how it works and who may be eligible for treatment
Important safety information and what to expect with therapy
For full prescribing information and important safety details, please visit https://www.kygevvi.com/.

Primary Mitochondrial Disease Evaluations: The evolving role of muscle biopsy

MitoAction — Tue, 16 Dec 2025 17:35:36 +0000

Genetic testing and muscle biopsies are important tools in diagnosing mitochondrial disease, but sometimes it can be confusing how and when they are used. This presentation will seek to bring clarity around how these two different testing options are used, why clinics may choose to use one testing option over another, what information they can/cannot tell us, and how clinics use these options to determine a diagnosis of mitochondrial disease.

Updates on Cardiomyopathy: Diagnosis and Management in FAOD

MitoAction — Fri, 21 Nov 2025 20:41:32 +0000

Dr. Chatfield will discuss cardiomyopathy and LC-FAODs, share current research, the direction of which it is heading, and treatment strategies. She will also explore prolonged-QT and electrical issues, how this interacts with metabolic crisis, and ways for doctors to monitor the heart.

How to Keep Airways Clear and Breathing Great - Bulbar Function and Respiratory Muscles

MitoAction — Fri, 21 Nov 2025 20:38:13 +0000

Patients with progressive or static neuromuscular disease, and certainly mitochondrial disease, can cause significant difficulty with airway clearance. This can be a problem on an everyday basis when a patient is well, but will become a much larger problem when a patient is acutely ill. We will discuss the link between bulbar / upper airway function, respiratory muscle weakness and airway clearance and how to optimize airway clearance and lung health.

Serial Casting and Toe Walking

MitoAction — Fri, 21 Nov 2025 20:32:55 +0000

Do you or your child struggle with toe walking? Are you curious about why it occurs and where the concerns lie? Is toe walking reversible and what strategies do physical therapists to help with reduce it? Join Pamela Tucker as she explores these questions while also introducing us to a relatively new strategy called, "Serial Casting." Together we will learn more about this technique, when it may be useful to explore and how it is done.

All About Ketones

MitoAction — Fri, 21 Nov 2025 20:23:31 +0000

There has been interest in using Ketones as a treatment for FAOD. What exactly are ketones? This presentation will go over what ketones are, how ketones are made in the body and how ketone supplements might be a little different. We will also discuss the current evidence that ketones might be a potential treatment option and what are the key unresolved questions about ketones that are limiting the field moving forward.

Introducing and Implementing Principles in Aquatic Therapy

MitoAction — Fri, 21 Nov 2025 20:20:17 +0000

Aquatic physical therapy provides a supportive environment to address a wide range of functional goals such as muscle strengthening, enhancing postural control, increasing core stability, reducing muscle stiffness, and facilitating mobility. This discussion will review the principles of exercise in an aquatic environment and explore how aquatic therapy can positively impact your health with a mitochondrial condition

Managing challenges and maximizing success in chronic mechanical ventilation

MitoAction — Fri, 21 Nov 2025 20:11:46 +0000

Mechanical ventilation can be a critical component of a comprehensive and successful plan to support a patient’s respiratory needs in helping them maximize their quality of life and reach their full potential. Doing so successfully starts with and continues to center around a discussion with a patient and his/her family about what their wishes are for the type of respiratory support and then customizing the approach accordingly. This discussion will review different approaches towards successful respiratory support for patients with mitochondrial disease.

Understanding Rare Genetic Variants: What Do My Results Really Mean?

MitoAction — Fri, 21 Nov 2025 20:02:10 +0000

When a genetic variant is shared by only a handful of individuals worldwide, what does it mean for diagnosis, treatment, and research? In this session, we’ll explore the complexities of interpreting ultra-rare genetic mutations, especially in the context of mitochondrial disease. How do clinicians and geneticists determine whether a novel or rare variant is pathogenic? What frameworks are used to classify variants, and how do phenotypic data contribute to this process? Can a “variant of uncertain significance” (VUS) eventually be reclassified as clinically meaningful? Join Dr. Rossana Sanchez, Assistant Professor and Pediatric & Metabolic Geneticist at Emory Genetics, for an in-depth discussion on the scientific, clinical, and emotional challenges faced by individuals in the mitochondrial disease community who truly are “the rare among the rare.”

Two Generations of Mitochondrial Augmentation Technology: Clinical Advances in Treating Primary Mitochondrial Disease

MitoAction — Fri, 21 Nov 2025 19:54:32 +0000

Mitochondrial Augmentation Technology (MAT) involves internalizing healthy, functional mitochondria into patient-derived cells to address mitochondrial dysfunction. Minovia has developed two generations of MAT products, studied in patients with primary mitochondrial disease in collaboration with Sheba Medical Center. In this presentation, Dr. Elad Jacoby, the treating physician, and Dr. Noa Sher, Minovia’s CSO, will discuss the promises, challenges, and clinical outcomes of this innovative therapy, providing a comprehensive review of the data to date. This session offers valuable insights for patients, families, and clinicians interested in cutting-edge mitochondrial disease therapies.

Expert Series: Hope on the Horizon: The Vital Role of Patients in Clinical Research

MitoAction — Sat, 15 Mar 2025 17:52:29 +0000

There is unprecedented momentum in the mitochondrial disease clinical trial landscape, and the patient community plays a vital role in ensuring these trials have the potential to lead to new and effective treatments. This expert series aims to demystify clinical trial participation and answer your most pressing questions. Dr. Amy Goldstein, Clinical Director of the Mitochondrial Medicine Frontier Program will discuss what to expect if you participate in clinical trials, and highlight their importance in the drug approval process, and Chad Glasser, Sr. Director of Clinical Research at Tisento Therapeutics, will discuss the actively recruiting PRIZM MELAS study.

Expert Series: Pyruvate Dehydrogenase Complex Deficiency Essentials: including current trials/research and prospects for newborn screening

MitoAction — Sat, 15 Mar 2025 17:39:46 +0000

Dr. Bedoyan will present the essentials for understanding pyruvate dehydrogenase complex deficiency (PDCD) and detail current clinical trials and therapeutics research for this disorder at UPMC Children’s Hospital of Pittsburgh. He will also describe the elements of newborn screening (NBS) and update the audience of current research and prospects for future PDCD NBS.

Expert Series: Immune Cell Function in Mitochondrial Disease

MitoAction — Sat, 15 Mar 2025 17:16:12 +0000

Immune dysfunction is increasingly appreciated in mitochondrial disorders. Join Dr. Melissa Walker to review the small number of known immune manifestations of specific primary mitochondrial disorders as well as emerging studies on non-specific immune dysfunction in mitochondrial disease more broadly.

Extensive DNA Sequencing in Cyclic Vomiting and Chronic Fatigue: Implication for Genetic Testing and Personalized Treatment Options

MitoAction — Wed, 12 Mar 2025 02:28:52 +0000

In May 2023, Dr. Boles and his research group published a scientific paper on the results of 50 people that had either whole exome or whole genome sequencing. About 30 genes were identified that are highly likely or likely to be risk factors for Cyclic Vomiting Syndrome. The vast majority of these genes involved cation (kat·ai.aan) (positively-charge salts) channels or mitochondria (energy metabolism), suggesting that disease results from a vicious cycle of cellular over-excitation(x-cytation). Dr. Boles will discuss how genetic information can help find an individual’s genetic predisposition towards cyclic vomiting, and how that translates to treatment options, including those treatments generally not considered in CVS. Lastly, he will briefly discuss 18 chronic fatigue patients with extensive DNA sequencing.

Expert Series: Rhabdo Roundtable for teens and adults with FAODs.

MitoAction — Wed, 12 Mar 2025 02:10:39 +0000

Expert Series: At the crossroad of mitochondrial disease and mitochondrial dysfunction

MitoAction — Wed, 12 Mar 2025 02:00:50 +0000

Why are patients with Fibromyalgia, Chronic Fatigue, Lymes diagnosed with mitochondrial disease? How do I know I have Mito? What should my doctor look for to consider further testing for Mito? Join Dr. Amel Karaa for a discussion about misdiagnosed mitochondrial disease.

Expert Series: Ceramides: The Unmasked Drivers of VLCADD-Induced Heart Failure

MitoAction — Wed, 12 Mar 2025 01:49:24 +0000

Despite advances in newborn screening and treatment of fatty acid oxidation disorders, patients with very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) continue to suffer from heart failure. Marie Norris will discuss her preliminary data which suggests that lipotoxicity, largely mediated by the accumulation of ceramides, is a major contributor to VLCADD-induced heart failure. Ms. Norris will discuss the role of ceramides, while addressing the mounting evidence that elevated ceramides contribute to heart failure in humans/rodents and that cardiac function improves with ceramide depletion.

Expert Series: Expanded Access and Compassionate Use of Experimental Therapies

MitoAction — Sun, 09 Mar 2025 15:32:59 +0000

“Expanded Access” and “Compassionate Use” are terms that are utilized in our rare disease community, but what do they mean? How do patients learn about, get involved, better understand the qualifications, and talk with their doctor about participation in either of these programs? Join MitoAction and Dr. Koenig as we dive deep into better understanding the differences and overlap between “Expanded Access” and “Compassionate Use” therapies.

Expert Series: LCHADD Retinopathy Update: Moving Toward a Treatment

MitoAction — Sat, 08 Mar 2025 14:38:44 +0000

Having a better understanding of what things are associated with LCHADD retinopathy can provide insight towards developing treatment. During this presentation, Dr. Gillingham will provide an update on the current results of a natural history study of 40 patients with LCHADD. She will also discuss what factors are associated with retinal structure and function, and how blood biomarkers or genetics might be related. Lastly, Dr. Gillingham will update our FAOD community about her lab’s efforts to treat retinopathy in an LCHADD mouse.

Expert Series: Managing the Highs and Lows of Mitochondrial Disease: a review and updates on diabetes and hypoglycemia

MitoAction — Sat, 08 Mar 2025 14:24:11 +0000

Join Dr. McCormack and Dr. Guzman as they review and discuss the causes of high and low blood sugars in mitochondrial disease, while also providing important updates on mitochondrial diabetes and hypoglycemia management.

Enhancing the Lives of Mitochondrial Disease Patients Through Compounded Treatment Options

MitoAction — Sat, 08 Mar 2025 14:12:51 +0000

Numerous Mitochondrial disease patients consume something known as the "Mito Cocktail". What is this exactly? How do you decide where to get components of your "Mito Cocktail" and what are the pros and cons of using a compounding pharmacy? How do compounding pharmacies work with clinicians to make sure that patients are receiving the treatments that they need? Join MitoAction and Chemistry RX as we seek to better understand these questions and the compounding pharmacy.

Presenters: Jonathan Mordis, PharmD and CEO; Houry Lepedjian, PharmD and VP of Operations; Jennifer Kmetich, PharmD and Lab Director

Expert Series: Ins and Outs of the Mito Cocktail: Part 2 of 2

MitoAction — Sat, 08 Mar 2025 13:51:12 +0000

In the, “Ins and Outs of the Mito Cocktail: Part 2 of 2,” Dr. Toufas will expound on his December expert series where he explored how our bodies digest and absorb nutrients from food. He will dive deep into how different components of the mito cocktail work after they are absorbed in our body! If you have not watched his December Expert Series, take a moment to prepare for this webinar by watching it here!

Expert Series: Ins and Outs of the Mito Cocktail: Pat 1 of 2

MitoAction — Sat, 08 Mar 2025 06:57:28 +0000

In the, “Ins and Outs of the Mito Cocktail: Part 1 of 2,” Dr. Toufas will explore how our bodies digest and absorb nutrients from food, and discuss what difficulties exist in getting supplements/nutrients into our cells and mitochondria. He will take a deeper look at the Krebs Cycle and Electron Transport Chain, explain which vitamins and cofactors are used in these processes, and discuss ROS (Reactive Oxygen Species)/Oxidative damage.

The goal of Part 1 is to establish a better understanding of nutrition and food digestion/absorption, to paint a clearer picture of barriers encountered in supplemental therapy. Dr. Toufas will join us back again March 7, 2025 with part two of this series, diving deeper into how different components of the mito cocktail work after they are absorbed in our body!

Expert Series: Understanding diseases of mitochondrial DNA maintenance

MitoAction — Fri, 07 Mar 2025 16:34:51 +0000

This presentation will focus on the diseases that disrupt the normal process of copying our mitochondrial DNA. Dr. Copeland will summarize the genes (POLG, POLG2, TWNK, and SSBP1) that are involved in copying our mitochondrial DNA and how they participate in preventing or causing mutations in mitochondrial DNA. Then he will focus on the diseases caused by mutations in these genes and the consequences of these mutations on mitochondrial function and health.

Expert Series: Understanding the Pediatrician’s Role in the “Growing Up Years”

MitoAction — Thu, 06 Mar 2025 18:56:29 +0000

When you have a child with a rare disease, who sees so many different doctors, it can feel challenging to know how your pediatrician fits into the picture! How do you use this very special doctor to help you navigate your questions, collaborate with other doctors, and move through the everyday life of navigating a rare disease. Join Dr. Daniel Nale as he provides practical tips and advice for patients and clinicians, after walking with an FAOD family from infancy through adulthood.

Aging with Mito

MitoAction — Fri, 16 Jun 2023 23:43:00 +0000

Dr. Mark Tarnopolsky, founder, CEO and CSO of Exerkine Corporation, a biotechnology/nutraceutical company developing therapies for aging, obesity, muscular dystrophy, and mitochondrial disorders, discusses aging as it relates to mito in this Expert Series recording.

Original Airdate: June 16, 2023

Mitochondria and Psychiatry

MitoAction — Fri, 03 Mar 2023 20:20:00 +0000

This presentation will discuss mitochondria and psychiatry and cover the evidence that for a subset of people with bipolar disorder, mitochondria may be dysregulated in the brain. Medications used for bipolar disorder can change mitochondrial function and several novel strategies can target mitochondria.

Wondering Wednesdays: Ask the Genetic Counselor Episode 1

MitoAction — Thu, 02 Feb 2023 02:53:00 +0000

Join us for this monthly expert series where we dive into what a genetic counselor is, what they do, how they can help you in your diagnostic journey, and some mito genetics 101.

Mito Town Meeting

MitoAction — Mon, 30 Jan 2023 03:06:00 +0000

The annual mito town meeting is our way of kicking off the new year by sharing all that we have in store for the next 12 months! We will hear from organizations and companies around the globe that have special opportunities, programs and projects for patients and families affected by mitochondrial disease.

Grief and Mito

MitoAction — Fri, 16 Dec 2022 15:20:00 +0000

The only thing universal about grief is that it’s universal, something we’ll all experience at some point in our lives. It’s messy, hard, non-linear, and while it may change, grief is never ending. The complexities of being a parent, caregiver, or patient in the mitochondrial disease community adds many layers that impact the grieving process. Join us as chaplain and author Becky Sansbury leads us in a discussion with Jessica Fein and Adam Johnson, about the different kinds of grief we experience throughout the mito journey.

Transition Tips for Patients and Parents

MitoAction — Sat, 05 Nov 2022 01:16:00 +0000

Join Dr. Jordan Kemere as she discusses different components of healthcare transition including finding adult physicians, insurance changes, and transitioning to adult life. She will offer practical tips to parents and caregivers to start working on transition even at a young age.

Navigating the Financial Minefield of Genetic Testing

MitoAction — Fri, 21 Oct 2022 14:23:00 +0000

There are so many misunderstandings and misconceptions of genetic testing. Dave will attempt to clarify these issues, and provide tools to empower patients to participate in their care from a financial perspective. His objective will be to provide a clear and concise breakdown of appropriate testing for Mito families seeking a diagnosis, while keeping their out of pocket costs as low as possible.

LCHADD Retinopathy

MitoAction — Wed, 05 Oct 2022 23:30:00 +0000

The underlying cause of LCHADD retinopathy is not fully understood. This presentation will look at the research that identifies the cell in the eye that is initially affected and characteristics associated with vision loss. Join Dr. Gillingham as she discusses early data on the natural history study and some new pre-clinical models to test novel treatments for LCHADD retinopathy.

Cardiac Complications with LCHADD

MitoAction — Wed, 14 Sep 2022 19:25:00 +0000

Cardiac complications were often identified in symptomatic infants and children before newborn screening. Cardiac dysfunction can re-emerge or present for the first time during metabolic crisis at any age. This presentation with Dr. Melanie Gillingham will discuss the cardiac presentation in adolescent/young adults with LCHADD and discuss current efforts to better understand this late complication of LCHADD.

Reneo Pharmaceuticals LC-FAOD REN001 Clinical Trial Update

MitoAction — Thu, 18 Aug 2022 18:45:00 +0000

There was much discussion about current research in FAODs at our recent International Metabolic conference last month. Reneo Pharmaceuticals recently released positive results from the REN001 Phase1b LC-FAOD Study.

The Ins and Outs of CHOP Mito Clinic

MitoAction — Fri, 05 Aug 2022 23:15:00 +0000

Mitochondrial Medicine at Children’s Hospital of Philadelphia (CHOP) is emerging as the premiere center in the world for multidisciplinary clinical care, advanced diagnostics and therapies, and individualized basic, translational, and clinical research programs dedicated to improving the health of patients of all ages living with mitochondrial disease. The program is part of the Division of Human Genetics.

The Frontier Programs are unique, cutting-edge programs that will forge important new discoveries, deliver novel therapies, and help children and adults thrive.

Please join us for an informational session to guide your visit and care through the CHOP Mitochondrial Medicine Program. Dr. Amy Goldstein, the Clinical Director, and Genetic Counselor James Peterson will answer your questions.

Exercise and Nutritional Issues in Mitochondrial Disease

MitoAction — Fri, 15 Jul 2022 23:11:00 +0000

Join MitoAction and Dr. Mark Tarnopolosky to discuss:

What exercises are good for mitochondrial disease and how do we exercise safely?
Are there any diets or dietary concerns for patients with mitochondrial disease?
What is the current status of the mitochondrial cocktail?

Psychiatric Disorders, Meds and Mito

MitoAction — Fri, 08 Jul 2022 13:15:00 +0000

Dr. Marcus Favero speaking on Psychiatric Disorders, Medications & Mitochondrial Disease

Depression, schizophrenia, bipolar disease, and other psychiatric diseases - what is the connection for patients with mitochondrial disease?

Spectrum Needs, a New Comprehensive Nutritional Therapy for Autism, Functional Conditions and Mitochondrial Disease - 4/6/2018

MitoAction — Fri, 24 Jun 2022 21:24:00 +0000

Talking points include:

-What does the medical literature say regarding the uses of nutritional therapies in the autism and related neurodevelopmental disorders?

-What about the uses of nutritional therapies in functional disease such as pain, fatigue, GI dysmotility, dysautonomia, anxiety, and depression?

-What exactly is Spectrum Needs, and how can it be used as nutritional support for the above conditions?

-Spectrum Needs beyond the spectrum: What about the use of this product in the average "mito" patient?

-How to integrate SpectrumNeeds into a complicated supplement regiment?

About The Speaker:

Richard G. Boles, MD

Dr. Richard G. Boles completed medical school at UCLA, a pediatric residency at Harbor-UCLA, and a genetics fellowship at Yale. For over two decades, Dr. Boles' clinical and research focus has been on changes in genes involved in energy metabolism, and more recently ion channels, and their effects on the development of common functional disorders. Examples include autism, pain syndromes, chronic fatigue, cyclic vomiting, intestinal dysmotility/failure, and depression. Dr. Boles practices the "bedside to bench to bedside" model of a physician-scientist, combining an active clinical practice with basic research into the underlying genetic predispositions leading to the same conditions. He has over 80 published papers, mostly in mitochondrial medicine. For 20 years, Dr. Boles was a faculty member at the Keck School of Medicine at USC and a practicing medical geneticist and metabolic specialist at Children's Hospital Los Angeles. He was a Medical Director of Lineagen and Courtagen, which are/were genetic testing companies. Dr. Boles became involved in genetic testing in order to facilitate the translation of the vast amounts of acquired genetic knowledge into applications that improve routine medical care. Dr. Boles has an active private practice in Pasadena and Aliso Viejo, CA. About half of the patients he currently sees as a physician have one of more functional conditions, especially cyclic vomiting syndrome, other forms of complex migraine, and/or chronic fatigue syndrome. Most of the other half have an autistic spectrum disorder or related condition. His clinical practice is devoted to using information, including genetic testing, to guide options for therapy. His care philosophy, practice, and types of patients he accepts are discussed at http://molecularmitomd.com. A telemedicine practice has just started at https://cnnh.org. Dr. Boles also does legal consulting, especially for those with multiple functional conditions that others are considering fictitious disorder/Munchausen-by-proxy/medical child abuse. Finally, he is the primary designer of SpectrumNeedsTM, a nutritional product with 33 active ingredients designed for individuals with autism or other neurodevelopmental disorders, with an emphasis on assisting mitochondrial function (https://www.neuroneeds.com).

What You Should Know About Genetic Testing for Mitochondrial Disorders

MitoAction — Fri, 24 Jun 2022 18:27:00 +0000

Join Amanda Balog, CGC, Senior Genetic Counselor, Mitochondrial and Metabolic Genetics, of GeneDx as she discusses: "What You Should Know About Genetic Testing for Mitochondrial Disorders."

Talking points include:

Many genetic testing options for Mito patients are available and no one test is right for every individual patient.
Sample type matters when testing for mitochondrial disorders.
Detailed clinical information and family member testing is important for the interpretation of genetic testing.

About The Speaker

Amanda Balog is a board-certified genetic counselor and is the lead genetic counselor for the Mitochondrial and Metabolic Testing Programs at GeneDx. Prior to joining GeneDx, Amanda worked for several years as a clinical and research genetic counselor specializing in immune and lysosomal storage disorders.

Interpreting Genetic Testing

MitoAction — Fri, 24 Jun 2022 18:01:00 +0000

Join us with Dr. Richard Boles as we learn more about how to interpret genetic test results.

The landscape today for a mitochondrial disease diagnosis is rapidly changing and now includes some genetic testing for most patients. However, many families are confused even further by the results. What is an VUS? What do the specific mutations mean? What does 30% depletion mean?

Learn the nuts and bolts of interpreting today's genetic tests from Dr. Boles in this informative discussion.

About the Speaker

Dr. Boles practices the "bedside to bench to bedside" model of a physician-scientist, combining an active clinical practice in metabolic and mitochondrial disorders with clinical diagnostics and basic research through Courtagen. Dr. Boles' clinical and research focus is on polymorphisms (common genetic changes) in the DNA that encodes for mitochondrial genes, and their effects on the development of common functional disorders. Examples include migraine, depression, cyclic vomiting syndrome, complex regional pain syndrome, autism and SIDS.

Interview with Andrew Mele

MitoAction — Fri, 24 Jun 2022 17:51:00 +0000

Meet Andrew Mele

Medical Ethics and Patient Rights

MitoAction — Fri, 24 Jun 2022 17:28:00 +0000

Join in to listen to RN, Julie Gortze.

2018 Mito Town Meeting

MitoAction — Fri, 24 Jun 2022 16:39:00 +0000

Organizations share what they have planned for the next 12 months.

The annual town meeting is our way of kicking off the new year by sharing all that is planned for the next 12 months. We'll hear from organizations and companies around the globe that have special opportunities, programs, and projects for patients and families with mitochondrial disease.

We'll hear from the following organizations, among many others!

MitoAction
Mitochondrial Medicine Society
Foundation for Mitochondrial Medicine
BioElectron
Stealth BioTherapeutics
Oley Foundation
GeneDx
Miracles for Mito
UMDF
MitoBridge
Ultragenyx
Reata Pharmaceuticals
VMP Genetics
Lineagen Mitochondrial & Molecular Medicine
North American Mitochondrial Disease Consortium
Australian Mitochondrial Disease Foundation
ThriveRx

Basics of Estate Planning and Special Needs Trusts

MitoAction — Thu, 23 Jun 2022 18:37:00 +0000

Please join MitoAction as we welcome Annette Hines, Esq., founding partner of the Special Needs Law Group of Massachusetts. Ms. Hines will be speaking on the basics of estate planning and special needs trusts laws in the U.S. Questions to be answered include:

What is estate planning?
Why should you create a plan for your estate?
What does a will do?
What is probate, and which assets go through it?
What is a trust?
What documents are required for incapacity planning?
What is a special needs trust, and why would you need one?

About the Speaker

Ms. Hines has been practicing in the areas of Special Needs, Elder Law and Estate Planning for over fifteen years. She received her JD from Howard University School of Law, her MBA from Suffolk University and her BA from the University of Vermont. Her clients include individuals and families of children with special needs, the elderly and others in the community.

Ms. Hines is the mother of two daughters, one of whom passed away from mitochondrial disease in November of 2013. Her personal experience as the mother of a child with special needs fuels her passion for quality special needs planning and drives her special understanding and dedication to her practice.

Prior to practicing law, she founded and directed the nonprofit home care company, Special Families-Special Care, Incorporated which created a new standard for caregiving and a greater pay scale for caregivers. After leading the company to $1.5 million in revenue and 50 employees, she merged it with Shriver Clinical Services Corporation of Natick, Massachusetts and shifted her focus to her law practice.

In addition to her membership in the Massachusetts Bar Association, she is a member of the National Academy of Elder Law Attorneys (NAELA), the National Academy of Special Needs Planners (ASNP) and the Massachusetts Association of Women Lawyers (MAWL), serving most recently as President. Recognized as a Distinguished Citizen by ARC Massachusetts and cited for public service by both the Massachusetts State Senate and House of Representatives, Ms. Hines works tirelessly on behalf of people with disabilities. Ms. Hines served as President of the Massachusetts Association of Women Lawyers for 2008-2009 and serves on the Board of Directors for a number of local non-profit organizations.

Cannabis Oil to Treat Mitochondrial Disease

MitoAction — Thu, 23 Jun 2022 18:31:00 +0000

What is the historical use of marijuana for medical purposes?
Are there legalities associated with medical marijuana use?
When is medical cannabis a potential therapeutic option for patients with mitochondrial disease?
Are there guidelines on dosing and use?
Is it true that medical cannabis is for pain and seizures only?
Is marijuana addictive, even when used for medical purposes?
Have there ever been safety studies published about use of marijuana for medical purposes?

Join us with Dr. Fran Kendall to get the answers to these questions and more regarding the use of medical marijuana (cannabis oil) for treatment in mitochondrial disease patients.

Georgia just signed into law the use of cannabis oil for a number of diseases, including mitochondrial disease. Several Mito families in Georgia advocated on behalf of this legislation. While 35 other states have passed similar legislation, Georgia is the first state to include mitochondrial disease in the list of disorders to be treated.

Dr. Kendall will touch on historical perspective, mechanisms of action, dosing, safety and outcome data.

About the Speaker

Dr. Kendall trained and served on the staff at Boston Children's Hospital and Harvard Medical School for a number of years. She was the previous 50% owner of a successful genetic laboratory/healthcare provider (Horizon Molecular Medicine), and has extensive experience in the diagnosis and management of children with a wide array of metabolic disorders. She brings this vast experience to her private practice, VMP, LCC, as president and founder. Dr. Kendall is a well respected pediatrician as well as biochemical geneticist, and she has authored numerous research articles on rare diseases ranging from Nieman Pick Type C and mitochondrial disease. As one of the few clinical mitochondrial disease experts, she has a long-term interest in research and clinical aspects of rare metabolic diseases.

2014 Mito Awareness Rally

MitoAction — Thu, 23 Jun 2022 18:00:00 +0000

We had a wonderful Awareness Rally on Friday, Sept. 5, featuring people who are doing amazing things to raise awareness about mitochondrial disease.

Each speaker brought great ideas to the table and truly demonstrated the diverse ways we can raise awareness in our communities. We want you to get excited and inspired about raising awareness.

Below, you will find some helpful links and ideas from our speakers. Let's take action to improve the lives of patients and families with mitochondrial disease!

Kristi Wees' blog, Baby Food Steps (and her Mito Minutes)

Kristi's California Pizza Kitchen fundraiser Sept. 15-18 in Pittsburgh

Request a CPK fundraiser night

Christine Knox's Mito Quilts of Hope website

Facebook page for Mito Quilts of Hope

Christine's Story on Indiegogo campaign

Facebook page for Cream Mito

Cooper's Race: A MitoAction Energy Walk & 5K Race in Kingsport, TN

Mito Mad Hatter 5K

Here's an easy way to make Mito cookies! Cut out sugar cookies using a jelly bean shaped cutter, then decorate with frosting and round sprinkles. Put some in baggies with an information card about Mito and hand them out to your school class, at work, at parties! Thanks, Nicole and Natalie Dion, for the great idea!

Cooper Open and Cooper Open Scholarship in Greenland, NH

Kelley and Alyssa Curley, along with the rest of their family, make and sell these rainbow loom bracelets for Team Lissy Loo for the MtioAction Energy Walk & 5K. So far they've sold over 700 and made $700 for Team Lissy Loo! For more on Team Lissy Loo, click here.

Jeantine Lunshof was recently diagnosed with Mito and takes every opportunity to educate her Harverd colleagues. Her team for the MitoAction Energy Walk & 5K is Running Genes.

Ethan Allen, captain of Mito Warrior's Platoon, has been collecting bottles and cans for his MitoAction Energy Walk & 5K team. He also holds information booths, has been in the media, and recently participated in the Fonda Fair Convoy for a Cause. For more on his story, click here.

Tell your story to legislators; fight to pass bills; be vocal!

Mito Support of New England meeting feature Rep. Paul Heroux, who is trying to pass a bill to form a Rare Disease Advisory Council in Massachusetts

House Bill 977 would mandate coverage of the Mito Cocktail for all mitochondrial disease patients in the state of Massachusetts.

Thank you for helping raise awareness!

9 Tips to Ensure Your Insurer Pays Up

MitoAction — Thu, 23 Jun 2022 17:57:00 +0000

Frustrated with the run-around from health insurance companies? Join us this month as we discuss strategies for advocating for the diagnosis, management, and treatment of your mitochondrial disease:

Questions to ask when you receive a health insurance denial
How to write and get help with an appeal
Easy relationship building strategies to give you the advantage
Online tools and organization habits to stay on top of claims

EPI-743 Clinical Trial Update

MitoAction — Thu, 23 Jun 2022 17:46:00 +0000

Dr. Matt Kline & Dr. Guy Miller

Stealth BT Mitochondrial Myopathy Trial

MitoAction — Thu, 23 Jun 2022 17:38:00 +0000

Join us with Stealth BioTherapeutics CEO Travis Wilson and others from the Stealth BT team for a live update from Stealth BT (click here to check out their website), information about Bendavia, and details about StealthBioTherapeutics' 2015 mitochondrial myopathy clinical trial.

A Q&A opportunity is included in this important discussion. Parents, patients and families - please join us!

This special teleconference/webinar is offered in collaboration by the UMDF and MitoAction.

For more information about the Stealth Mitochondrial Myopathy Trial, please call the trial question hotline 1-877-227-5018

Or visit www.clinicaltrials.gov (search Bendavia)

Trial Question Hot Line: 1-877-227-5018

https://www.mitoaction.org/resources/stealth-bt-mitochondrial-myopathy-trial/

Genetics, Genomics & Mitochondrial DNA Testing

MitoAction — Thu, 23 Jun 2022 17:32:00 +0000

Tools for Testing Mitochondrial Disorders: The Latest Advances in Genetics and Genomics

Guest speaker Dr. Richard Boles from Children's Hospital Los Angeles and Courtagen Life Sciences, Inc. to discuss:

What is genomic sequencing and how does it change testing for mitochondrial disorders?
Is NextGen testing appropriate for all people with suspected mitochondrial disease?
How can DNA sequencing change information available about family inheritance of mitochondrial diseases?
Do advances in genomic sequencing impact treatment options for Mito patients?

About The Speaker:

Dr. Boles completed medical school at UCLA, a pediatric residency at Harbor-UCLA, and a genetics fellowship at Yale. He is board certified in Pediatrics, Clinical Genetics and Clinical Biochemical Genetics. His current positions include Associate Professor of Pediatrics at the Keck School of Medicine at USC, Director of the Metabolic and Mitochondrial Disorders Clinic at Children's Hospital Los Angeles, and Medical Director at Courtagen Life Sciences Inc. Dr. Boles practices the "bedside to bench to bedside" model of a physician-scientist, combining a very active clinical practice in metabolic and mitochondrial disorders with basic research as Director of a mitochondrial genetics laboratory at the Saban Research Institute. Dr. Boles' clinical and research focus is on polymorphisms (common genetic changes) in the maternally-inherited mitochondrial DNA, and with new technology in the nuclear DNA (chromosomes), and their effects on the development of common functional disorders. Examples include migraine, depression, cyclic vomiting syndrome, complex regional pain syndrome, autism and SIDS. He has 50 published papers on mitochondrial disease. Dr. Boles is responsible for the final review of DNA sequences at Courtagen.

Mito, Autism and Cerebral Folate Deficiency

MitoAction — Thu, 23 Jun 2022 17:24:00 +0000

Dr. Richard Frye, MD PhD, Director of Autism Research and Associate Professor of Pediatrics at Arkansas Children's Hospital to discuss:

Evidence for Mitochondrial Dysfunction in Autism Spectrum Disorder
Biomarkers for mitochondrial dysfunction
Importance of cerebral folate deficiency/insufficiency and the folate receptor autoantibody
How cerebral folate deficiency/insufficiency is diagnosed and treated

About The Speaker:

Dr Richard Frye, MD, Ph.D.is the Director of Autism Research at Arkansas Children's Hospital/University of Arkansas Medical Sciences in Little Rock, AR. Dr Frye is a well-recognized expert in the diagnosis and treatment of ASD and other developmental disorders. Dr. Frye has a broad background including specific training in neurodevelopmental disorders, physiology, psychology and biostatistics. He is fellowship trained in Behavioral Neurology and Psychology and has clinical expertise in the assessment, diagnosis and treatment of children with ASD. While at the University of Texas he developed a medically-based autism clinic which was specifically designed to diagnose and treat neurological and metabolic abnormalities associated with ASD in order to improve quality of life and promote recovery. Over the past two years he have completed three clinical studies related to ASD, including an open-label trial examining the metabolic and behavioral effects of tetrahydrobiopterin, a clinical study of the metabolic and genetic characteristics of children with ASD and mitochondrial disease, and a clinical study on the prevalence of the folate receptor alpha autoantibody in children with ASD as well as the response to leucovorin treatment in ASD children with the folate receptor alpha autoantibody. As Director of Autism Research at the Arkansas Children's Hospital his goal is to develop an integrated autism program that includes a multi-specialty autism clinic, a translational research program focusing on biomarkers and clinical-trials, and a basic science program focusing on mitochondrial and redox metabolic metabolism.

Interpreting Common Lab Tests for Mitochondrial Disease

MitoAction — Thu, 23 Jun 2022 17:17:00 +0000

Dr. Mark Korson from Tufts Floating Hospital for Children gives a "crash course" in interpreting lab values! Most patients with mitochondrial disease have faced a page of test results comprised of letters and numbers that would help them understand their current illness if the information made sense. CBC, CMP, LFTs, CPK, OAA and more...join us as we figure it out!

CBC
CMP
Lactic acid
pyruvic acid
amino acids
organic amino acids
ammonia
electrolytes
glucose
bicarbonate/co2
metabolic labs
CPK
LFTs
carnitine
TFTs: TSH, T4, T3
cerebral folate

About The Speaker:

Mark Korson graduated from the University of Toronto medical school and completed his pediatric residency nearby at The Hospital for Sick Children. He came to Boston to do a fellowship in genetics and metabolism at Children's Hospital. Following that, he directed the Metabolism Clinic at Children's until 2000, transferring then to Tufts Medical Center's Floating Hospital for Children. He is currently the Director of the Metabolism Service and an Associate Professor of Pediatrics at Tufts University School of Medicine.

Besides clinical medicine, a key focus for Dr. Korson is education. He is concerned about the growing crisis in metabolic health care due to the shortage of clinicians available to treat this community. To complicate this situation, there are too few people entering this subspecialty. In the fall of 2007, Dr. Korson launched the Metabolic Outreach Service, for which he has travelled on a regular basis to five teaching hospitals in the northeastern US where there is no on-site metabolic service. The goal is to provide educational and consultative support so that non-metabolic clinicians can learn how to participate more in the diagnosis and management of patients with metabolic disease.

A component of this effort is the Patient-As-Teacher Project, which engages patients and family members to participate actively in the teaching of medical students, house-staff, primary care providers and specialists. The Outreach Service is funded by a consortium of corporate and disease foundation sponsors.

In addition, Dr. Korson co-directs the North American Metabolic Academy, a one-week intensive course about metabolic disease for genetic and metabolic trainees. NAMA is sponsored by the SIMD, the Society for Inherited Metabolic Diseases.

Service Dogs for Children and Adults with Mito

MitoAction — Thu, 23 Jun 2022 17:07:00 +0000

How can a service dog help a child or adult patient with mitochondrial disease?

Learn more and ask questions, such as:

How can service dogs help someone with mitochondrial disease?
Do service dogs only help people who are deaf?
What do service dogs do medically?
How can my family apply for a service dog and what is our responsibility?

Exercise

MitoAction — Thu, 23 Jun 2022 13:10:00 +0000

How can children, teens and adults with mitochondrial disease EXERCISE, especially if fatigue and exercise intolerance are hallmark symptoms of the disease?

Metabolic Nurse Educator, Margaret O'Riley, from Vancouver, British Columbia shares about the research - and practical solutions - surrounding exercise and mitochondrial disease.

This discussion will dig into questions that are relevant to children, teens and adult patients, such as:

Why or why not should my child or I exercise?
How?
What does the research say?
What type of exercise is best?

About the Speaker

Margaret is a registered nurse who has been practicing for 18 years. 11 of those years have been spent at the Adult Metabolic Diseases Clinic at Vancouver General Hospital where she focuses her practice on working with adults with mitochondrial disease. Through the years, Margaret has learned a great deal about living with mitochondrial disease from the patients she works with. She is passionate about her work and about supporting this population. Her other passion is her 3 little boys, ages 2, 5 and 7.

Blood Tests for Mitochondrial Disease Diagnosis

MitoAction — Thu, 23 Jun 2022 13:08:00 +0000

As a follow-up discussion to Dr. Fran Kendall's presentation on "Muscle Biopsy Testing for Mitochondrial Disease", MitoAction welcomes Dr. Steve Sommer of MEDomics to discuss testing for mitochondrial disease using a blood sample.

About MEDomics

After 23 years in academia, Dr. Steve Sommer started MEDomics in order to apply a revolutionary technology called "NextGen sequencing" to clinical mitochondrial medicine. (www.medomics.com)

MEDomics sequences the entire mitochondrial DNA genome thousands of times. That sometimes allows the diagnosis of mitochondrial disease to be made with a blood sample rather than with painful muscle biopsies. MitoDx is a test of unprecedented power for diagnosing mitochondrial genome disease, which is roughly "half the elephant" of mitochondrial disease.

Caring for the Whole Patient

MitoAction — Wed, 22 Jun 2022 19:57:00 +0000

For someone who lives with mitochondrial disease, understanding the "big picture" is important.

Dr. Koenig will explore the importance of caring for the whole patient when managing mitochondrial disease. How does each organ system affect others when looking at the "whole" person? For example, can treating anemia improve sleep? Can appropriate management of epilepsy improve a child's ability to learn and attend school?

Naturally, the symptoms and issues related to one's mitochondrial disease diagnosis are not isolated to one part of the body, and consideration of the impact that these symptoms have on the "whole person" is important.

About the Speaker

Dr. Mary Kay Koenig, a pediatric neurologist at Children's Memorial Hermann Hospital and assistant professor in the Department of Pediatrics, Division of Child and Adolescent Neurology, at the University of Texas Medical School at Houston. Dr. Koenig is a member of the American Academy of Pediatrics, the American Academy of Neurology and the Child Neurology Society. She is a board member of the Houston chapter of the United Mitochondrial Disease Foundation.

Dr. Koenig's research interests are focused on mitochondrial disorders, neuro-metabolic disorders, autoimmune epilepsy, and neuro-genetic disorders.

Hyperbaric Oxygen Therapy use in Mito Patients - 8/6/2010

MitoAction — Wed, 22 Jun 2022 19:55:00 +0000

Dr. Bruce Cohen from the Cleveland Clinic in Ohio discusses his perspective on the use of hyperbaric oxygen therapy, also known as HBOT, for people with mitochondrial disease.

Hyperbaric oxygen therapy is the use of 100% oxygen at a level higher than the atmosphere. HBOT is controversial, and has long been used to treat some conditions, such as carbon monoxide poisoning, burn inuries, and decompression sickness. However, some studies propose that HBOT may play a positive role with other conditions, such as autism, cerebral palsy, brain injury, multiple sclerosis and others.

Some patients and parents ask, "Is hyperbaric oxygen therapy safe for a person with the diagnosis of mitochondrial disease?"

About the Speaker

Dr. Bruce Cohen, from the Cleveland Clinic in Ohio, is well known in the mitochondrial disease community. In addition to his background in mitochondrial medicine, Dr. Cohen has an extensive background in conducting clinical trials for cancer treatment.

Muscle Biopsy Testing - 7/9/2010

MitoAction — Wed, 22 Jun 2022 19:53:00 +0000

For many years, muscle biopsy has been considered the "best" way to obtain an accurate diagnosis of mitochondrial disease. Muscle biopsy is costly, it is invasive, and is occasionally controversial with results that can be difficult for patients and families to understand.

Will there ever be an alternative to muscle biopsy testing for children and adults with suspected mitochondrial disorders? When does someone need a muscle biopsy? Why (and when) is a muscle biopsy necessary?

Dr. Fran Kendall from Virtual Medical Practice in Atlanta, Georgia updates us on the latest approaches to testing for mitochondrial disease.

Muscle biopsies - why are they done?
How do muscle biopsies help with a diagnosis?
Fresh vs. frozen - is one better?
Cost factors for Mito muscle testing
Emerging trends in enzymology: buccal swab studies
The need to identify causative Mito genes.

Mitochondrial Toxicity - 6/4/2010

MitoAction — Wed, 22 Jun 2022 19:51:00 +0000

Join us this month to take a big picture look at agents that are toxic or potentially harmful to the mitochondria.

Dr. Katherine Sims from Massachusetts General Hospital shares information important to everyone concerned about their health, and explains why recognizing potentially toxic agents - from medications to environmental factors - can be especially worrisome and detrimental for children and adults who have a mitochondrial disorder.

About the Speaker

Katherine Sims, MD is an associate professor of Neurology at Harvard Medical School and Director of the Developmental Neurogenetics clinic at MGH in Boston, MA. Dr. Sims is also chair of MitoAction's Medical Advisory Committee and works in research collaboration with Dr. Vamsi Mootha at the Broad Institute toward clinical phenotyping and metabolic profiling for mitochondrial disorders. Dr. Sims oversees the MGH Mitochondrial Disorders Clinical Registry and Tissue Bank.

Nutrition for Mitochondrial Disease Patients - 5/7/2010

MitoAction — Wed, 22 Jun 2022 19:38:00 +0000

Join us this month to learn more about the challenges facing kids and adults with Mito when it comes to nutrition. What are the goals for Mito patients, and how are they different from nutrition goals for the typical population?

About The Speaker

Abby Usen received her B.S. in Food and Nutrition Sciences and Dietetics from the University of Vermont. She completed her dietetic internship at the Frances Stern Nutrition Center and received her M.S .from the Friedman School of Nutrition Science and Policy at Tufts University. Since gradating from Tufts, she worked as a clinical dietitian/clinical nutrition manager at the Massachusetts Hospital School in Canton, Ma where she specialized in nutrition for children and adolescents with developmental disabilities. Most recently she has been an outpatient dietitian specializing in Pediatric Gastroenterology at Floating Hospital for Children at Tufts Medical Center. A great portion of her time is specifically working with patients with failure to thrive, gastrointestinal dysmotility and mitochondrial disease. She also spent 3 years working with patients having Inborn Errors of Metabolism and is the current Chair, of the Massachusetts Pediatric Practice Group.

Becoming a Great Advocate: Advice for Complex Patients and Families

MitoAction — Wed, 22 Jun 2022 19:28:00 +0000

Becoming a great advocate: advice for complex patients and families, with Mark Korson MD and Maggie Orr RN

Adult patients, caregivers, parents of affected children - all of us face the same challenge. How do we get our team on board? How do we get the help we need from doctors, teachers, nurses, therapists? How do we find ways to validate symptoms that are slippery or difficult to identify? And how do we do this in a way that brings positive results and cooperation instead of provoking stress and hard feelings?

Q&A with Compounding Pharmacists

MitoAction — Wed, 22 Jun 2022 19:24:00 +0000

One of the front-line treatment approaches to mitochondrial disease is use of a combination, unique to each patient based on symptoms and diagnosis, of vitamins and supplements such as Coenzyme Q10, B-vitamins, L-Carnitine, Creatine and Alpha Lipoic Acid.

Compounding pharmacists Saad Dinno, RPh, and Dr. Virginia Tawa, PharmD, from Acton Pharmacy answer everything you wanted to know about the ingredients which make up the mysterious "Mito Cocktail."

What is a compounding pharmacist?
How do ingredients in the Mito cocktail different from a compounding pharmacist than an over-the-counter source?
What are the side effects of the vitamins & supplements used to support adults and children with mitochondrial disease?
Which vitamins and supplements are most commonly included in a treatment regimen?

Update on Mito Treatment Approaches -

MitoAction — Wed, 22 Jun 2022 19:13:00 +0000

Learn about current treatment options.

About the Speaker

Dr. Anselm is a member of MitoAction's medical advisory committee and practices in Child Neurology at Children's Hospital Boston. Her research is focused on clinical presentation of children with mitochondrial disorders and their response to therapy with different medications and vitamins/ supplements.

Dr. Anselm is currently participating in several clinical research studies. She is a co-investigator in a study using Dichloroacetate (DCA) to treat children with lactic academia. She sees children enrolled in the protocol when they are admitted to CH for DCA initiation and follows them in the Mitochondrial Program while they are being maintained on the DCA. Dr. Anselm also is Principal Investigator in a study entitled "Indirect calorimetry and nutritional assessment in patients with mitochondrial disorders." Children enrolled in this study undergo evaluation of their resting energy expenditure by indirect calorimetry and nutritional assessment. They also undergo metabolic evaluation by measurement of the levels of micronutrients/vitamins in their blood. Dr. Anselm also is involved in a multicenter study of patients with Angelman syndrome.

Coping with Mitochondrial Disease - 10/5/2009

MitoAction — Wed, 22 Jun 2022 17:56:00 +0000

MitoAction welcomes psychologist Carole Slipowitz PhD and Tufts Metabolism clinic nurse coordinator Maggie Orr RN M.Ed to discuss the challenges of dealing with a diagnosis of mitochondrial disease.

How do you cope with the unpredictable, invisible disease?

Any chronic illness can be overwhelming - for a child, a family, or an adult with the condition. However, due to the unpredictability, complexity of symptoms, and uncertain prognosis, a diagnosis of mitochondrial disease is especially stressful...and exhausting.

About the Speaker

Maggie Orr is the nurse coordinator at the Tufts Medical Center Floating Hospital for Children in Boston; she has 10 years of prior experience with mitochondrial disease patients. Carole Slipowitz has over 20 years of experience as a psychologist; for the past 2 years she has served as a consultant to MitoAction's Mito 411 support line.

Social Security Disability Insurance and Supplemental Security Income - 8/7/2015

MitoAction — Wed, 22 Jun 2022 17:48:00 +0000

Please join us on as we welcome two experts in the field of Social Security Disability Insurance (SSDI) and Supplemental Security Income (SSI) provide an overview of these public benefits for Mito patients. Topics to be covered in this conference call include:

Overview of SSI and SSDI programs;
The differences between SSI and SSDI;
Social Security’s definition of disability as it pertains to mitochondrial disease;
How SSDI is designed to work, eligibility criteria, and the full range of SSDI benefitts;
The application and appeals processes for SSI and SSDI;
Resources available to support SSI and SSDI applications and appeals processes;
Information on SSI and SSDI benefits for adult disabled children;
Returning to work after obtaining social security benefits (the "Ticket to Work Program");
Specific challenges for individuals with mitochondrial disease in applying for SSDI and how to address them; and
The benefits of professional representation and how to evaluate representation options.

About the Speakers:

Annette Hines has been practicing in the areas of Special Needs, Elder Law and Estate Planning for over fifteen years. She received her JD from Howard University School of Law, her MBA from Suffolk University and her BA from the University of Vermont. Her clients include individuals and families of children with special needs, the elderly and others in the community.

Tai Venuti has more than 20 years of health education, marketing, sales, community and public relations experience in nonprofit, government and corporate arenas. As Allsup's manager of strategic alliances, she develops and grows relationships with organizations that share the company's commitment to empowering people with disabilities to live lives as financially secure and healthy as possible.

Ms. Venuti is a former journalist and public relations executive. She previously managed national public health campaigns for the U.S. Department of Health and Human Services. She holds a master's degree in public health from St. Louis University, a bachelor's degree in journalism from Michigan State University, and is accredited by the Public Relations Society of America.

Mitochondrial Medicine Society Publications - 3/6/2015

MitoAction — Wed, 22 Jun 2022 17:41:00 +0000

Join us with Dr. Sumit Parikh, Director of the Cleveland Clinic Neurogenetics, Metabolic and Mitochondrial Disease program, and past president of the Mitochondrial Medicine Society. Learn more about the 2014-2015 publications based on collaborations and consensus surveys completed by the Mitochondrial Medicine Society. The landmark series of publications is the first to address existing standards of care and most common approaches to diagnosis, use of supplements and symptom management by leaders in mitochondrial medicine around the US.

Key points:

Mitochondrial medicine's complexity bring unique challenges to physicians
The practice of Mitochondrial Medicine has varied from provider-to-provider
Patients and families deserve uniformity in regards to diagnosis and treatment
The MMS Consensus Project was conceived with this goal in mind

About The Speaker

Dr. Parikh is the Director of the Cleveland Clinic Neurogenetics, Metabolic & Mitochondrial disease program. His clinical and research interests include the genetic diagnosis and treatment of patients with mitochondrial cytopathies, inborn errors of metabolism, cognitive and developmental regression, autism, leukodystrophies and developmental delays. He is part of the North American Mitochondrial Disease Research Consortium (NAMDC) and the Primary Investigator for the Pearson Syndrome Natural History study. He is an invited lecturer at national meetings and hospitals.

He completed his residency in pediatrics and fellowship in child neurology at the Children's Hospital of Pittsburgh and received additional training in genetics and metabolism at Cleveland Clinic and Centers for Inherited Diseases of Metabolism. Dr. Parikh has had the privilege of having Bruce Cohen, Charles Hoppel and Marvin Natowicz serve as his teachers during that time.

He joined the Cleveland Clinic in 2004. Since 2007, Dr. Parikh has been selected as one of "America's Best Doctors."

He serves as Scientific & Medical Advisor to the United Mitochondrial Disease Foundation, Cyclic Vomiting Syndrome Association and the International Foundation for CDKL5 Research. He is the Past President of the Mitochondrial Medicine Society. He is an invited faculty member of the North American Metabolic Academy. He was on the scientific planning committee of the Child Neurology Society and is an ad hoc reviewer for the Journal of Child Neurology, Journal of Inherited Metabolic Disease and Molecular Genetics & Metabolism.

7 Simple Strategies for Sibling Support

MitoAction — Fri, 17 Jun 2022 16:53:00 +0000

Siblings of children with disabilities play important roles in their families, and often experience similar concerns and opportunities as parents. This session will present some common issues that siblings experience and share seven simple ways that parents and providers can help minimize sibling concerns and maximize opportunities to build close bonds with siblings.

PDCD (Pyruvate Dehydrogenase Complex Deficiency)

MitoAction — Thu, 19 May 2022 16:53:00 +0000

What is the mitochondrial disorder PDCD?

PDCD is an abbreviation for pyruvate dehydrogenase complex deficiency, a genetic mitochondrial disorder in children which is frequently associated with lactic acidosis and neurological/neuromuscular symptoms. Join us Friday November 7th, 2014 with Dr. Peter Stacpoole from the University of Florida to learn about testing, diagnosis and treatment of PDCD.

(From Dr. Stacpoole's Benefunder Research page)

Mitochondria are the intracellular "powerhouses" of our cells. They are responsible for generating the energy needed by every tissue and organ in our bodies to perform their normal functions. Energy is essential to life and, when energy production is compromised, disease results. PDC is a key enzyme for maintaining the body's energy supply. The scientific team lead by Dr. Peter Stacpoole at the University of Florida in Gainesville, Florida, has connected a number of disease states to their potential treatment with the drug dichloroacetate (DCA). DCA stimulates PDC, increasing its ability to promote cellular energy production. DCA has shown promise in treating several life-threatening diseases, including cancer, pulmonary arterial hypertension and congenital PDC deficiency in children.

Solutions are needed to deliver the fruits of science to patients for whom they are intended. With DCA, Dr. Stacpoole's team has developed a uniquely acting compound that is a prototype of new class of drugs to increase the efficiency of normal metabolic processes essential for cell survival. Indeed, the story of DCA is a striking example in which the basic scientific questions have been answered and animal studies and even early stage clinical trials have been conducted. Yet, DCA is too simple a molecule to be patented. This problem has prevented traditional pharmaceutical support for conducting human trials with DCA in diseases in which currently approved therapy is either inadequate or nonexistent.

About the Speaker

Dr. Stacpoole received his Ph.D. in 1972, from the University of California at San Francisco. He received his MD degree in 1976, from Vanderbilt University in Nashville, Tennessee. He also completed his internship and residency (1976-1978) training in Internal Medicine and Endocrinology Fellowship (1978-1980) training at Vanderbilt University. In 1980, Dr. Stacpoole became a member of the Department of Medicine at the University of Florida where he is currently a Professor of Medicine, Biochemistry and Molecular Biology.

Research Interests

Dr. Stacpoole's federally-sponsored research is broadly focused in two areas: intermediary metabolism and new drug development. He conducts patient oriented research on the Shands Hospital Clinical Research Center (CRC) and collaborates with investigators across N. America into the causes and treatment of genetic mitochondrial diseases, due to nuclear DNA or mitochondrial DNA mutations in genes that encode enzymes of carbohydrate metabolism or oxidative phosphorylation. These studies also engage collaborators with expertise in neurology, neurobehavior, clinical pharmacology, neuroscience and cell and molecular biology.

Related research includes mechanistically oriented laboratory studies on the molecular and biochemical consequences of loss-of-function mutations in the mitochondrial pyruvate dehydrogenase complex (PDC) and therapeutic interventions for PDC deficiency. He also collaborates with other faculty at the University of Florida to investigate the regulation of homocystine metabolism in humans in response to different genotypes or nutritional perturbations.

With regard to new drug development, Dr. Stacpoole and his colleagues have developed a prototype for a novel class of investigational drugs for the treatment of acquired or inborn errors of mitochondrial energy metabolism and lactic acidosis. The prototype of this class, dichloroacetate (DCA), is undergoing clinical trials on the CRC in healthy subjects and in children and adults with congenital lactic acidosis. Its sites and mechanisms of action are being further explored by in vitro and in vivo laboratory studies employing cell and molecular techniques and mass spectrometry.

Immune Function and Mitochondrial Disease

MitoAction — Thu, 19 May 2022 16:37:00 +0000

What is the impact of illness or infection on a patient with mitochondrial disease?

Patients, parents, and healthcare providers with firsthand experience of mitochondrial disease have probably experienced the consequences of an illness or infection. Illnesses and infections have a more dramatic and prolonged impact on children and adults who suffer from mitochondrial disorders, often causing long periods of fatigue, regression in developmental milestones, skills or baseline function, and exacerbation or complaints of additional (unrelated) symptoms during and after the period of illness. In addition, some physicians and families notice an increased susceptibility to illness for patients with mitochondrial disease. However, there is limited published data on systematic analysis of immune system in patients with mitochondrial disease. Research focusing on the relationship between immune function and the mitochondria has been mostly limited to cell-based studies.

Join us to listen, learn and discuss the recent research and publication from an interdisciplinary collaboration between clinical investigators, Dr. Melissa Walker (Neurology), Katherine Sims (Metabolic Diseases) and Jolan Walter (Pediatric Immunology) at Massachusetts General Hospital, Boston, MA. These clinicians sought to determine how often infection and illness (including a systemic inflammatory response) occurred in patients with well-defined mitochondrial disease and immunodeficiency. A subset of their mitochondrial patients with evidence of immune abnormaliites repsponded well to immunoglobulin replacement therapy with less infections, preserved developmental milestones and improved quality of life.

About the Speaker

Dr. Katherine Sims is a Pediatric Neurologist at the Massachusetts General Hospital. Her clinical work over the last 30 years has focused on the broad scope of neurogenetic disorders including those of the lysosome, particularly neuronal ceroid lipofuscinosis [Batten disease, NCL disorders], Fabry disease, Norrie disease, general neurometabolic disorders and, most recently, the primary mitochondrial energy metabolism disorders Over the last 15 years, Dr. Sims, working as clinician scientist, has directed the design and development of Patient Registries and BioRepositories for Mitochondrial, NCL and Norrie diseases. She is an expert diagnostician and works with great facility in identifying clinical cases and facilitating entry into appropriate clinical translational studies.

Jolan E. Walter, MD, PhD is the Director of Pediatric Immunodeficiency Program at Massachusetts General Hospital for Children. Dr. Walter’s clinical care focuses on patients with immune deficiency. She jointly follows patients with mitochondrial disease and immune dysfunction with the Neurogenetics Program (Dr Kathy Sims, Dr Amel Karaa and Dr Melissa Walker). She also conducts translational research on autoimmune manifestation of primary immunodeficiencies. Dr. Walter has graduated with a MD and PhD from University of Pecs, Hungary. Dr. Walter is has trained in Pediatrics at Children’s Hospital of the King’s Daughters, Eastern Virginia Medical School and in Allergy/Immunology at Boston Children’s Hospital. During her training, she conducted research both in the field of Virology and Immunology.

Melissa A. Walker, MD, PhD is a fourth year trainee in the Massachusetts General Hospital Child Neurology Residency ProgramDr. Walker’s clinical and scientific interests focus on improving the understanding and treatment of primary mitochondrial disorders. Dr. Walker received her MD and PhD degrees from Columbia University College of Physicians and Surgeons in New York City, New York. She trained in Pediatrics at the Massachusetts General Hospital for Children in Boston, Massachusetts.

Autism, Mito and Oxidative Stress

MitoAction — Thu, 19 May 2022 16:28:00 +0000

Join us for an informative discussion with Dr. Richard Frye, Director of Autism Research and Director of the Autism Multispecialty Clinic at Arkansas Children's Hospital Research Institute.

There is increasing evidence that mitochondrial dysfunction is associated with autism spectrum disorder. Learn more about the latest research investigating the causes of this relationship, including the role of oxidative stress for these children.

Topics include:

The evidence for mitochondrial disease and dysfunction in autism spectrum disorder
The importance of the oxidative stress in autism spectrum disorder and its impact on mitochondrial function
The evidence for a subset of children with autism with acquired mitochondria dysfunction as a result of high levels of oxidative stress

About The Speaker

Dr. Richard Frye is the Director of Autism Research at Arkansas Children's Hospital Research Institute, Director of the Autism Multispecialty Clinic at Arkansas Children's Hospital and Associate Professor in Pediatrics at the University of Arkansas for Medical Sciences. He received his MD/PhD from Georgetown University in 1998. He completed a residency in Pediatrics at the University of Miami, Residency in Child Neurology and Fellowship in Behavioral Neurology and Learning Disabilities at Harvard University/Children’s Hospital Boston and Fellowship in Psychology at Boston University. He holds board certifications in Pediatrics, and in Neurology with Special Competence in Child Neurology. Dr. Frye is a national leader in autism research. He has authored over 100 peer-reviewed publications and book chapters, and serves on several editorial boards of prestigious scientific and medical journals.

Over the past several years he has completed several clinical studies on children with autism spectrum disorder (ASD), including studies focusing on defining the clinical, behavioral, cognitive, genetic and metabolic characteristics of children with ASD and mitochondrial disease and several clinical trials demonstrating the efficacy of safe and novel treatments that address underlying physiological abnormalities in children with ASD, including open-labels on tetrahydrobiopterin, cobalamin and folinic acid and a recent double-blind placebo controlled trial on folinic acid. Future research efforts are focused on defining physiological endophenotypes of children with ASD and developing targeted treatments.

Hearing Loss in Mitochondrial Disease

MitoAction — Thu, 19 May 2022 15:47:00 +0000

Understanding the mechanisms of mitochondrial deafness

Join us this month with Dr. Peter Kullar, Clinical Research Fellow at the Wellcome Trust Research Centre for Mitochondrial Disease at Newcastle University (UK) to learn about mitochondrial disease and hearing loss. Key topics include:

Mechanisms of hearing and hearing loss
Clinical profile, workup and diagnosis of a new patient
Treatments and new directions for therapies
Research studies for patients with mitochondrial disease related hearing loss

Dr. Kullar and Dr. Chinnery have a specific interest in the A1555G mutation (antibiotic associated deafness) and in causes of mitochondrial disease related deafness.

Learn more at http://www.newcastle-mitochondria.com/research-projects/understanding-mechanisms-mitochondrial-deafness/

About the Speaker

Dr. Peter Kullar is a clinical research fellow at Newcastle University's Wellcome Centre for Mitochondrial Disease Research.

2014 Mito Town Meeting

MitoAction — Thu, 19 May 2022 15:46:00 +0000

Join us for the annual "Mito Town Meeting" on Thursday Jan. 9, 2014 at noon EASTERN time (9 a.m. Pacific).

The annual town meeting is our way of kicking off the new year by sharing all that is planned for the year. We'll hear from volunteers and representatives from a variety of programs and organizations. This is the meeting to attend if you want to get involved or get informed!

AGENDA

Welcome
MitoAction Socials & Events
UMDF Meeting 2014
Courtagen Life Sciences
EPI-743 Clinical Trial
Thrive RX iThrive webinars
Camp Korey Mito Weeks
Hole in the Wall Gang Camp
Stealth Peptides
Miracles for Mito
Foundation for Mitochondrial Medicine
Light a Light for Mito
Mito 411 & Marcel's Way
Research Study Updates
Northwest Mito Guild
Mito Canada
1:15-1:30 Additional announcements and questions – all are welcome.

Helping Your Child Become Independent

MitoAction — Thu, 19 May 2022 15:43:00 +0000

How can you prepare your child for independence?

Transition to independence is challenging and important for all kids, but helping your child make good choices on his own when he or she also has a chronic illness can be complicated. How much independence is too much? At what age do you start planning for transition and allowing your child to make choices? How can we let our kids make their own decisions - and their own mistakes - when the stakes are so high? How can kids learn to self-advocate? What can parents do to help their chronically ill kids be able to listen to their own bodies, and to learn to plan accordingly?

Join us for a special presentation on "Tools for Transition: Gaining independence" with Ann Weaver, patient advocate at Thrive RX, and Dr. Parag Shah, medical director of the Children's Chronic Illness Transition Team at Lurie Children's Hospital.

About The Speaker

Parag Shah, MD, MPH - Dr. Shah currently serves as the medical director of the Chronic Illness Transition Program at Lurie Children's Hospital in Chicago, IL. The Program works to provide education to youth and staff regarding transition, advise departments on their transition programs, and conduct some research surrounding transition. Dr. Shah graduated from Albert Einstein College of Medicine and completed his residency training at Children's Memorial Hospital in Chicago. He currently also works as a hospitalist at LaRabida Children's Hospital.

Ann Weaver - Ann is a Consumer Advocate for ThriveRx and the parent of a 19 year old son with chronic health issues. She recognizes the importance of providing teachable moments for children growing up with chronic health needs and guiding them to independence. She has advocated for parenteral and enteral consumers as an OLEY volunteer regional coordinator. As an CA she supports HPEN consumers and has developed transition materials for parents of children requiring nutrition support. Ann has presented on transitioning youth on HPEN at OLEY, AGMD and ASPEN. She has shared the perspective of consumer/caregiver at ASPEN and to other professionals, students and industry leaders in the parenteral and enteral nutrition field.

Ann holds an undergraduate degree in Psychology from Illinois Wesleyan University in Bloomington, Illinois.

Introducing Bendavia

MitoAction — Thu, 19 May 2022 15:41:00 +0000

Join us with Dr. Ben Bronstein and Travis Wilson from Stealth Peptides. Stealth Peptides is a private biotech company responsible for the development of innovative mitochondrial therapeutics, including the investigational new drug "Bendavia." Bendavia has been studied in animals and is currently in Phase 2 studies in patients with cardiovascular and kidney diseases. Bendavia appears to target mitochondria and may preserve cellular ATP levels and prevent pathological reactive oxygen species formation in disease. Please join us to learn more about this exciting new drug and future possibilities for use of Bendavia by children and adults with mitochondrial disease.

About The Speaker

Travis Wilson is the president and CEO of Stealth Peptides Incorporated, a clinical stage biopharmaceutical company developing a novel class of mitochondria-targeted peptide therapeutics for treatment of ophthalmic and orphan diseases. Stealth Peptides’ lead compound in Phase 2 development, Bendavia, maintains mitochondrial bioenergetics including membrane potential and respiration under pathological conditions. Bendavia has been shown to improve cellular ATP levels in disease, and prevent pathological reactive oxygen species (ROS) formation, thereby improving compromised cardiac, renal and skeletal muscle function.

Travis also serves as a director on several boards for preclinical and clinical stage companies, providing operational and management oversight to a portfolio of companies developing drugs across a broad spectrum of therapeutic focus, including oncology, cardiology and critical care. Travis is a member of the life science investment team at the Morningside Group, a private investment group.

Ben Bronstein is the Vice President of Clinical Development at Stealth Peptides Incorporated, a clinical stage biopharmaceutical company developing a novel class of mitochondria-targeted peptide therapeutics for treatment of ophthalmic and orphan diseases. In addition to his role with Stealth Peptides, Ben is a Visiting Scholar at the Wyss Institute of Biologically Inspired Engineering at Harvard University. A board certified pathologist, Ben began his professional career on the staff of the Massachusetts General Hospital and on the faculty of Harvard Medical School. He has spent the past 25 years in entrepreneurial roles at life science firms and in venture capital. Ben has founded or held senior management positions at several venture-backed life science firms, including BioSurface Technology (regenerative medicine), Peptimmune (immunotherapeutics), Vidus Ocular (glaucoma device) and Neuron Systems (dry AMD).

Most recently Ben has served as a founder and senior vice president of Access BridgeGap Ventures, the life science investment unit of Access Industries, Inc. Ben is also a member of the Weill Cornell Medical College Faculty Industry Council and the Oversight Committee of the Coulter Translational Partnership program in Biomedical Engineering at Boston University.

Get More from Every Doctor's Appointment

MitoAction — Thu, 19 May 2022 15:39:00 +0000

It's time to take charge of the many hours that we as patients and families spend in clinics, waiting rooms, hospitals, and healthcare provider offices. How can you get more out of every appointment? More importantly, how can you get what you need from those interactions?

Health care is changing, for better or for worse it's a new landscape. As a result, there are many, many changes which are forced upon healthcare providers and their patients. From changes in insurance reimbursement to productivity expectations for physicians, it's tough for both physicians and their patients right now.

Meanwhile, children and adults with mitochondrial disease live with complex illness and in most cases a long list of symptoms. We have mulitple specialists, sometimes in multiple places. We have local docs, community hospitals, university clinics, specialists, therapists, outpatient labs, inpatient labs, out-of-state Mito specialists, etc. etc. How can we stack the odds in our favor so that we, the patients and parents, get the most out of every healthcare interaction?

Join us with MitoAction's Executive Director Cristy Balcells RN MSN and Kathy Rivers MD to dig in to this topic and to hear strategy suggestions from Cristy and Kathy. Cristy and Kathy are both moms to children who live with mitochondrial disease and healthcare providers. We'll take a look behind the scenes of what happens outside of the waiting room and how to get more from all of those hours spent in the clinic.

Munchausens by Proxy Accusations in Children with Mitochondrial Disease

MitoAction — Thu, 19 May 2022 15:37:00 +0000

This topic is dramatically important to the parents of children with complex gastrointestinal presentations of mitochondrial disease. MitoAction brings this topic to our Mito community today in response to the increasing number of accusations of child abuse and Munchausen by proxy that have been placed upon many parents of children struggling from the devastating symptoms of mitochondrial disease.

Join us this month as we celebrate "International Mitochondrial Disease Awareness Week" across the globe and join efforts to improve awareness, acceptance and understanding of mitochondrial disease and the impact that the condition has on children and adults.

Dr. Flores will discuss "Munchausen by proxy and the intestinal failure patient" and take a candid look at cases where children with mitochondrial disease and intestinal failure caused the family's ability to care for the child to be called into question. Dr. Flores will address the challenges that face both physicians and parents when caring for these patients.

About the Speaker

Dr. Alex Flores serves on the MitoAction Medical Advisory Board and iis Chief of Pediatric Gastroenterology and Nutrition, Floating Hospital for Children at Tufts Medical Center, and an Associate Professor at Tufts University School of Medicine. He is a graduate of the Universidad de San Carlos de Guatemala School of Medical Sciences, and received graduate training at Baylor College of Medicine, Children's Hospital Boston/Harvard Medical School, Duke University Medical Center, Hospital Militar, Jacaltenango Hospital, Roosevelt Hospital in Guatemala, and the World Health Organization-UNICEF. Dr. Flores is board certified in Pediatric Gastroenterology and Pediatrics and works closely with Dr. Mark Korson to support metabolic and mitochondrial patients with GI dysfunction. In addition to developing the LAPEG procedure, Dr. Flores' specialties include GI motility disorders, and general pediatric gastroenterology.

To Work or Not to Work

MitoAction — Thu, 19 May 2022 15:28:00 +0000

To work or not to work...that is the question

Many adults with mitochondrial disease face a difficult decision about how to financially support themselves while balancing the energy demands and potential health toll of having a job. Working also gives many people more than just a paycheck; it can be a way to find gratification, and may be an important part of a person's identity. When faced with the challenging symptoms of mitochondrial disease, many things, including if and how to keep a job, come into question.

Join us this month with guest speaker Lee Rachel Jurman. All are welcome!

About the Speaker

Lee Rachel Jurman is a private disability advocate and case manager with Personal Disability Consulting, Inc. She helps adults living with disabilities and their families navigate the maze of public and private systems, and make informed decisions about living and working with disabilities.

Lee has more than 30 years of experience working with people with a range of disabilities. She was executive director of the Information Center for Individuals with Disabilities, a statewide non-profit Massachusetts agency for 6 years. She subsequently led a national corporate disability consultation and referral program at Work/Family Directions for over 9 years. Ms. Jurman has worked in a number of publicly funded community programs, and understands the services and systems available to people with disabilities. She has been in private practice since 2002, bringing compassion, experience, and a determined approach to identifying and securing the resources her clients need.

Lee is a summa cum laude graduate of Ohio University, with a Bachelor Degree in Music Therapy. She has a Master in Management of Human Services from the Florence Heller School at Brandeis University.

Lee is married, with two daughters adopted from China.

Medical Foods for Mito

MitoAction — Thu, 19 May 2022 15:25:00 +0000

Solace Nutrition & Medical Foods joined MitoAction to discuss:

What are medical foods, and how are they regulated?
What is the difference between medical foods, supplements & drugs?
How do medical foods interact with the electron transport chain in the mitochondria? (Click to see the video)
How do medical foods like coenzyme q10, creatine monohydrate, & D-ribose improve health and energy in people with mitochondrial disease?

Topics of this discussion include:

What are CoQ10, ubiquinol & Cyto-Q?
How do they work?
What is creatine monohydrate & is it helpful?
What is Cytose & is it helpful?

About the Speaker

Mark De Fries and Nancy Moore from Solace Nutrition are experts on metabolism and Medical Foods, and together they have a total of over 30 years of experience in developing medical foods for rare conditions such as Inborn Errors of Metabolism, Food Allergies and certain neurological disorders. The mission of Solace Nutrition is the development of Medical Foods that target diseases which can be better managed through nutrition and thus promote a better quality of life.

Drug Toxicity and Mitochondria

MitoAction — Thu, 19 May 2022 15:23:00 +0000

MitoAction is excited to welcome Dr. James Dykens, Director of Investigative Cellular Toxicity at Pfizer Drug Safety Research & Development and author of the 2008 book "Drug Induced Mitochondrial Dysfunction".

Dr. Dykens shares with us today his perspectives on the relationship of mitochondrial function to overall health and discusses the potential effects of potential drug-induced mitochondrial toxicity. As the relationship between mitochondrial function, aging, disease and health gain traction, the importance of mitochondrial function and cellular health is in the spotlight. Dr. Dykens also discusses drug effects in patients with mitochondrial disease as well as the idea of toxicity related mitochondrial impairment to muscles, organs, and the nervous system. Dr, Dykens makes it clear that the opinions expressed here are his alone, not those of Pfizer.

Mitochondrial Disease and the Immune System

MitoAction — Thu, 19 May 2022 15:05:00 +0000

Talking points include:

What is the immune system and why is it important?
Infection and mitochondrial disease
Immune function in mitochondrial disease

About The Speaker:

Dr. Peter McGuire

Dr. Peter McGuire received his MBBCh (with Honours) from the Royal College of Surgeons in Ireland in 2003. Following a combined residency in Pediatrics and Medical Genetics at Mount Sinai Medical Center in New York City, he remained as an Assistant Professor in the Program for Inherited Metabolic Diseases at Mount Sinai. Dr. McGuire is board certified in Pediatrics, Clinical Genetics and Biochemical Genetics.

In 2010, Dr. McGuire moved to the National Human Genome Research Institute (NHGRI) at the National Institutes of Health to join the Physician Scientist Development Program. He was appointed to the position of tenure track Investigator in 2016.

Throughout his career, Dr. McGuire has been focused on improving the care of patients with disorders of mitochondrial metabolism. By combining his training in Immunology and Biochemical Genetics, he has fashioned a translational research program to understand the interplay between mitochondrial metabolism and the immune system. As Head of the Metabolism, Infection and Immunity Section (MINIS) at NHGRI, Dr. McGuire and his team study the interplay between metabolism and the immune system in patients with inborn errors of mitochondrial metabolism. The group focuses on two aspects of immunometabolism:

1) Immune system activation and end-organ mitochondrial metabolism

The focus of the group's research on immune system activation and end-organ metabolism is based on the clinical observation that infection is a major cause of morbidity and mortality in patients with mitochondrial disease. The MINIS uses animal models, combined with infectious organisms, to yield insights into the metabolic perturbations seen in disorders of mitochondrial metabolism during infection and to identify potential targets for intervention.

2) Role of mitochondria in immune cell function

The group also studies mitochondrial metabolism and immune cell function. Immune cells drastically alter their metabolic programming during activation and differentiation. The deficiencies present in patients with mitochondrial disease may affect these processes. The group developed a clinical protocol in the National Institutes of Health (NIH) Clinical Center, called the NIH MINI Study: Metabolism, Infection and Immunity in Inborn Errors of Metabolism (NIH Clinical Trial NCT01780168). Immune phenotypes identified in patients are further explored via animal and cell culture model systems. By expanding the immune phenotype of patients with mitochondrial disease, these studies will have an impact on the clinical care of patients as well as serving as the foundation for understanding the role of mitochondria in immune function.

EPI-743 Leighs Syndrome Trial Update

MitoAction — Thu, 19 May 2022 14:38:00 +0000

An update from Edison Pharma on the Development of EPI-743 clinical trial for children with Leigh Syndrome.

Topics for this call include:

Status on EPI-743 clinical development;
Status on EPI-743 US clinical trials
Status on EPI-743 European clinical trials

Getting Involved: Awareness Walk & Events 2015

MitoAction — Thu, 19 May 2022 14:36:00 +0000

Update by Cristy Balcells about ways to get involved and spread awareness.

Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment

MitoAction — Thu, 19 May 2022 00:23:00 +0000

Join MitoAction and Dr. Richard Frye to discuss the distinction between primary and secondary mitochondrial diagnosis. Some talking points will include:

Primary mitochondrial disease (PMD) is ideally diagnosed by a known or indisputably pathogenic mitochondrial or nuclear DNA mutation.
Secondary mitochondrial dysfunction (SMD) can be caused by genes encoding either function nor production of the oxphos proteins and accompanies many heriditary non-mitochondrial diseases.
Secondary mitochondrial dysfunction (SMD) can also be caused by enviornmental factors.
In the absence of the ability to diagnose a primary mitochondrial disease (PMD), mitochondrial dysfunction can be effectively treated with standard treatments for PMD.
When the etiology of mitochondrial dysfunction is unknown, re-evaluation for genetic and other causes should be revisited on a regular basis.

About The Speaker:

Dr. Richard Frye is a pediatric neurologist and Chief of the Division of Neurodevelopmental Disorders at Phoenix Children's Hospital. He received his MD/PhD from Georgetown University in 1998. He completed a residency in Pediatrics at the University of Miami, Residency in Child Neurology and Fellowship in Behavioral Neurology and Learning Disabilities at Harvard University/Children’s Hospital Boston and Fellowship in Psychology at Boston University. He holds board certifications in Pediatrics, and in Neurology with Special Competence in Child Neurology. Dr. Frye is a national leader in autism research. He has authored over 100 peer-reviewed publications and book chapters, and serves on several editorial boards of scientific and medical journals.

Overwhelmed No More - Tips for Enjoying the Holidays!

MitoAction — Thu, 19 May 2022 00:16:00 +0000

Are you OVERWHELMED?

This time of year, we look forward to the joy, excitement, and fun of the holiday season: Thanksgiving, Hanukkah, Christmas, Kwanzaa, and the New Year are all occasions to rejoice and celebrate with family and friends.

But if you're like most adult patients or families of children with mitochondrial disease, the holidays can get complicated - or even overwhelming. With the holidays comes more than the usual amount of juggling, multitasking, planning, making, going, doing the to-do list grows fast, and it seems to get longer every year. For many Mito patients, caregivers and families, the expectations of others add extraordinary stress during this season.

For adult patients, spouses, and parents of children with Mito, being maxed out on both time and energy is already your normal state. Add on all the things we do - or want to do- during the holidays, and you've got a recipe for overload.

This month, MitoAction invited author and special guest Joan Celebi as she shares with us some ways to not just "survive" the holidays this year -- but be invigorated, refreshed, and renewed by them.

About the Speaker:

Joan Celebi is a certified life coach and special needs mom, and the author of Overwhelmed No More! The Complete System for Balanced Living for Parents of Children with Special Needs.Through internationally acclaimed tele-workshops and tele-coaching programs, Joan helps parents successfully navigate life with a child with special needs. Joan holds a Master's Degree in Education from Harvard University.

Mito Diagnosis and Autism

MitoAction — Thu, 19 May 2022 00:10:00 +0000

An informal discussion with Cristy Balcells on Mito diagnosis and Autism from our February 2011 Autism-Mito Support Meeting.

Mito-Autism Q&A and Parent/Patient

MitoAction — Thu, 19 May 2022 00:03:00 +0000

Mito Supplement Therapy

MitoAction — Wed, 18 May 2022 23:56:00 +0000

What is "the Mito Cocktail"?

Referring to the combination of vitamins and supplements used as therapies in the treatment and management of mitochondrial disease and mitochondrial dysfunction, the "Mito Cocktail" is unique to every patient. Join us with compounding pharmacist Ted Toufas PharmD RPh from Acton Pharmacy to learn more.

Understand what supplements are most commonly used as mitochondrial disease therapies?
Learn why certain supplements and co-factors help children and adults with mitochondrial disease or dysfunction
Explore the biochemistry of various supplements and how they work in the body and in energy metabolism
Discuss compounding and understand how compounding is used in mitochondrial disease therapy

About The Speaker:

Ted Toufas is a Clinical Pharmacist and Director of Education who has a Bachelor’s of Science from Worcester Polytechnic Institute in Biochemistry & Genetics, and a Doctorate of Pharmacy from Massachusetts College of Pharmacy. He has a passion for learning and imparting information to patients and colleagues. His role as Director of Education has him working with staff members and prescribers to develop better therapies and outcomes for patients. He will be developing a series of informational seminars for patients and providers in the local area. While he works closely with physicians and patients assessing medications and new therapies, he plays an important role in the Compounding Lab with formulation development and Quality Assurance. He has been at Acton Pharmacy in one capacity or another since 2005, and strives for a continuous improvement in the quality of healthcare for our patients.

Psychiatric Disorders in Mitochondrial Disease

MitoAction — Wed, 18 May 2022 21:30:00 +0000

Dr. Andrew Nierenberg from Massachusetts General Hospital to learn more about Psychiatric Disorders in Mitochondrial Diseases and Mitochondrial Dysregulation in Psychiatric Disorders.

Andrew Nierenberg MD is the Director of the Bipolar Clinic and Research Program, Massachusetts General Hospital Professor of Psychiatry at Harvard Medical School.

Emerging research suggests that there is a relationship from many psychiatric conditions and mitochondrial dysfunction. Join us to further examine:

1. The role of mitochondria in brain function;

2. Psychiatric manifestations of mitochondrial diseases; and

3. Mitochondrial dyregulations in psychiatric disorders.

The Menstrual Cycle as a Vital Sign in Navigating Rare Disease

MitoAction — Fri, 06 May 2022 17:15:00 +0000

Join MitoAction and board-certified family physician and Adjunct Associate professor of medicine at Georgetown University, Dr. Marguerite Duane, to explore the impact of the female menstrual cycle as a predictor in rare disease and improved healthcare outcomes. An often overlooked vital, understanding the female cycle can also help us understand the evolution of rare disease symptoms.

The Menstrual Cycle as a Vital Sign in Navigating Rare Disease

MitoAction — Fri, 06 May 2022 16:47:00 +0000

Palliative Care and Hospice - 4/3/09

MitoAction — Wed, 13 Apr 2022 00:50:00 +0000

Dr. Pat O’Malley from Massachusetts General Hospital talks about long-term care and quality of life support for adults and children with mitochondrial disease.

This month’s meeting is held in loving memory of Christopher A. Clark, whose family remained dedicated to helping him have the best quality of life possible every day.

About the Speaker

Dr. O’Malley has cared for several families with mitochondrial disease and helped them to find quality of life and balance despite the tragic progression of the disease. Join us as we learn more about palliative care and hospice, and work to uncover the benefits and break down the myths around what is often only associated with end-of-life.

Dr. O’Malley has trained in pediatrics, pediatric critical care, emergency medicine and palliative care at Massachusetts General Hospital and Children’s Hospital Boston. She has served as the director of the Pediatric ED at MGH for 25 years and is also the director of the new Pediatric Palliative Care Team.

Special Needs Planning - 3/9/09

MitoAction — Wed, 13 Apr 2022 00:47:00 +0000

lanning for your future with Mito… a workshop for parents & adult patients

Monthly International Teleconference Outreach

“It feels like each day is all I can handle – how can I possibly plan for the future??”

Living every day with mitochondrial disease as an adult patient or a parent caring for an affected child can be completely consuming and overwhelming. Many of us forget or put off thinking about the future, especially when the future feels so uncertain.

Jack Raycroft joins MitoAction with a compassionate perspective on simple steps you can take today to help ensure that your family’s future is more secure, giving us a little more peace of mind while we continue to live for today with Mito.

Each month, MitoAction holds a toll-free, international teleconference to address topics important to the Mito community.

Join us to discuss “LIVING TODAY WITH MITO & PLANNING FOR THE FUTURE” with guest speaker Jack Raycroft from Baystate Financial Services.

About the Speaker

John “Jack” Raycroft is a financial planner at Baystate Financial Services and a MetDESK Specialist with MetLife’s Division of Estate Planning for Special Kids. He works exclusively with families who have a dependent with special needs. Through workshops and consultations, Jack educates families (and the organizations that support them) on the issues critical to successful special needs planning. His work helps families prepare for the future and the time when they will not be present, or able, to care for their themselves or their children. He educates them on what they can do today and tomorrow to make their future more secure.

Jack speaks publicly throughout Massachusetts, New Hampshire and Rhode Island on the subject of special needs planning. He has presented at multiple organizations including The National Downs Syndrome Congress and LADDERS at Massachusetts General Hospital for Children.

Additionally, Jack serves as the Adjunct Planned Giving Director of maaps(Massachusetts Association of Approved Private Schools), a network of over 100 schools/programs serving all populations of the special needs pre-22 community. Jack provides charitable planning services to these schools upon request.

Jack is a parent of a child with special needs and he volunteers his time for the North Shore Arc, the Special Olympics and The Independent Living Center of the North Shore.

MitoAction Interview with Stephen - 3/2/09

MitoAction — Wed, 13 Apr 2022 00:43:00 +0000

MitoAction Interview with Stephen

MitoAction Interview with Jamie Emory - 2/25/09

MitoAction — Wed, 13 Apr 2022 00:40:00 +0000

MitoAction Interview with Jamie Emory

Autism and Mitochondrial Disorders: How Much Do We Really Know?

MitoAction — Wed, 13 Apr 2022 00:36:00 +0000

The possible relationship between metabolic disorders, elevated lactic acid levels, and features of autism spectrum disorder have been described in the medical literature since the early 90’s. In fact, much research exploring the correlation between autism or ASD (autism spectrum disorder) and mitochondrial dysfunction has been published throughout the last decade, long before the Hannah Poling case (March 2008) brought the association to the public’s attention.

Since the US Vaccine Compensation Board determined, based on Hannah Poling’s case, that “vaccines significantly aggravated an underlying mitochondrial disorder causing brain damage with features of autism spectrum disorder”, a whirlwind of confusion amongst parents of affected children has occurred.

Are vaccines safe?

Do children with mitochondrial disease have a potential to develop autism, or do children with autism have an underlying mitochondrial disorder?

Is mitochondrial dysfunction the “cause” of autism or behavior compatible with ASD?

What do we really know and understand about the relationship between autism spectrum disorders and mitochondrial cytopathies?

Join us as Dr. David Holtzman from Massachusetts General Hospital shares his perspective and research on the autism-mitochondrial disease debate.

Ideas from an Occupational Therapist

MitoAction — Wed, 13 Apr 2022 00:34:00 +0000

Join us this month with one of Atlanta’s most honored occupational therapists, Susan Orloff, OTR/L. Susan is owner of Children’s Special Services and has over 30 years experience helping children in both schools and the clinical setting. Susan brings fresh perspective and ideas to help adults AND children with mitochondrial disease through her hands-on experiences. Read Susan’s article on “Understanding the Energy Connection”.

Susan shares some of her perspective about the frustration people with mitochondrial disease may feel. She says, “The pessimistic view of life in the early part of the last century seems very close to what some children are probably feeling about their daily life in school. It is anxiety-provoking and tiresome to go to a place everyday where, no matter how hard you may try – you fail. But it doesn’t have to be this way. Occupational therapy is a treatment that is medically based to provide habilitation and rehabilitation to individuals experiencing difficulties in daily life functions. With children, this includes–but is not limited to–assistance with the attainment of age appropriate motor and visual perceptual abilities. The abilities include both academic and social skills required for life success.”

Susan hopes to offer some new ideas to adults and children who face fatigue, muscle weakness, and frustration due to their mitochondrial disorder. Susan is the author of Learning Re-Enabled and has won many awards for her outstanding contribution to the disability community.

Genetic Inheritance in Mitochondrial Disease: Fact vs. Fiction

MitoAction — Wed, 13 Apr 2022 00:31:00 +0000

MITO Meeting: MONTHLY INTERNATIONAL TELECONFERENCE OUTREACH

Join us with Dr. Katherine Sims from Massachusetts General Hospital as we take a closer look at understanding genetic inheritance patterns of mitochondrial disease.

Teen Interview with Harrison - 10/23/08

MitoAction — Wed, 13 Apr 2022 00:22:00 +0000

Teen Interview with Harrison

Teen Interview with Olivia - 10/23/08

MitoAction — Wed, 13 Apr 2022 00:19:00 +0000

Teen Interview with Olivia