MitoAction Expert Series

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...

 “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...

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 genetic...

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.

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...

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...

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 (Rea...

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 con...

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 pa...

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

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.

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.

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.

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...

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.

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.

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 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...

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.

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...

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?

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?

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...

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...

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...