PODCAST · science
MitoAction Expert Series
by MitoAction
Our monthly educational webinars feature guest speakers addressing topics important to the mito community, giving patients and families unprecedented access to leading clinical experts
Episodes
-
NARP: Understanding the Spectrum of Disease
NARP (Neuropathy, Ataxia, and Retinitis Pigmentosa) is a mitochondrialdisorder with a broad and variable clinical spectrum that can affect the nervous system, vision, movement, swallowing, cognition, and energy. This talk will explore the history and genetics of NARP, how genetic confirmation...
-
Understanding the FALCON Study: Investigating a Potential Therapy for Mitochondrial Disease
This presentation will dive deep into the “Falcon Study” to explain what this study is, who qualifies, the mechanism of action of the compound being studied, and how its efficacy is measured.
-
Understanding the potential of a “CPK Meter”
IVDS is a biotech company developing a CPK meter called, CPK Now. This small, handheld device will allow patients to check their creatine kinase (CK) level quickly from a fingerstick sample, so they and their care team can react sooner and monitor their care more effectively. This presentation…
more -
Simplifying the Mitochondrial Medication Experience Through Compounded Mito Cocktails
As the incidence of mitochondrial disease continues to rise, patients having a better understanding surrounding their therapies remains critical. Compounding pharmacies play a key role in simplifying medication regimens while providing affordable options. This presentation will explore the...
-
Lactic Acid & Mitochondrial Disease: When there’s too much of a good thing
Lactic acid is an essential metabolite in our body, helping move energy from tissues that generate it, to the tissues that need it the most. We will talk about what lactic acid is supposed to do and how that gets dysregulated in mitochondrial disease. Objectives include naming causes of high...
-
Eat Smart, Power Strong: Your Mitochondrial Nutrition Grade
If you were to grade your knowledge of nutrition and meal planning and preparation, would you pass? This presentation will explain the basic nutrition needs essential for overall health in individuals with mitochondrialdisease. Strategies for meal planning and meal preparation- while navigating...
-
An overview of gastrointestinal motility and mitochondrial function
Gastroparesis and motility complications are not uncommon for those with mitochondrial disease. During this presentation, Dr. Darbari will provide a background of our understanding of gastrointestinal motility and explore the complexities that patients face with diagnosis and current treatment...
-
Understanding the Current Landscape of Insurance Coverage for Rare Diseases
As our community celebrates the approval of two new therapies, understanding how to access coverage successfully has never been more important. In partnership with the Little Hercules Foundation and its founder, Kelly Maynard, this special MitoAction Expert Series will break down today’s evolving...
-
Neuropathy and Disorders of Mitochondrial Dysfunction
Dr. Amy Goldstein will join MitoAction to review the neurological system and the differences between types of neuropathies. She will explore what conditions neuropathy is most associated with, how neuropathy is diagnosed, testing options, and caveats behind testing. She will also share current...
-
Understanding TK2d and the KYGEVVI Approval
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…
more -
Primary Mitochondrial Disease Evaluations: The evolving role of muscle biopsy
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…
more -
Updates on Cardiomyopathy: Diagnosis and Management in FAOD
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
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...
-
Serial Casting and Toe Walking
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...
-
All About Ketones
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...
-
Introducing and Implementing Principles in Aquatic Therapy
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…
more -
Managing challenges and maximizing success in chronic mechanical ventilation
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...
-
Understanding Rare Genetic Variants: What Do My Results Really Mean?
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…
more -
Two Generations of Mitochondrial Augmentation Technology: Clinical Advances in Treating Primary Mitochondrial Disease
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...
-
Expert Series: Hope on the Horizon: The Vital Role of Patients in Clinical Research
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…
more -
Expert Series: Pyruvate Dehydrogenase Complex Deficiency Essentials: including current trials/research and prospects for newborn screening
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...
-
Expert Series: Immune Cell Function in Mitochondrial Disease
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...
-
Extensive DNA Sequencing in Cyclic Vomiting and Chronic Fatigue: Implication for Genetic Testing and Personalized Treatment Options
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…
more -
Expert Series: At the crossroad of mitochondrial disease and mitochondrial dysfunction
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
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…
more -
Expert Series: Expanded Access and Compassionate Use of Experimental Therapies
“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...
-
Expert Series: LCHADD Retinopathy Update: Moving Toward a Treatment
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...
-
Expert Series: Managing the Highs and Lows of Mitochondrial Disease: a review and updates on diabetes and hypoglycemia
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
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…
more -
Expert Series: Ins and Outs of the Mito Cocktail: Part 2 of 2
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...
-
Expert Series: Ins and Outs of the Mito Cocktail: Pat 1 of 2
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...
-
Expert Series: Understanding diseases of mitochondrial DNA maintenance
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...
-
Expert Series: Understanding the Pediatrician’s Role in the “Growing Up Years”
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…
more -
Aging with Mito
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
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...
-
Wondering Wednesdays: Ask the Genetic Counselor Episode 1
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
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…
more -
Grief and Mito
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…
more -
Transition Tips for Patients and Parents
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
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...
-
LCHADD Retinopathy
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...
-
Cardiac Complications with LCHADD
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...
-
Reneo Pharmaceuticals LC-FAOD REN001 Clinical Trial Update
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
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…
more -
Exercise and Nutritional Issues in Mitochondrial Disease
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
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
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...
-
What You Should Know About Genetic Testing for Mitochondrial Disorders
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…
more -
Interpreting Genetic Testing
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...
We're indexing this podcast's transcripts for the first time — this can take a minute or two. We'll show results as soon as they're ready.
No matches for "" in this podcast's transcripts.
No topics indexed yet for this podcast.
Loading reviews...
Loading similar podcasts...
Frequently Asked Questions
How many episodes does MitoAction Expert Series have?
MitoAction Expert Series currently has 100 episodes available on PodParley. New episodes are automatically indexed when they're published to the podcast feed.
What is MitoAction Expert Series about?
Our monthly educational webinars feature guest speakers addressing topics important to the mito community, giving patients and families unprecedented access to leading clinical experts
How often does MitoAction Expert Series release new episodes?
MitoAction Expert Series has 100 episodes. Check the episode list to see recent publication dates and frequency.
Where can I listen to MitoAction Expert Series?
You can listen to MitoAction Expert Series on PodParley by clicking any episode. We provide an embedded audio player for direct listening, and you can also subscribe via your preferred podcast app using the RSS feed.
Who hosts MitoAction Expert Series?
MitoAction Expert Series is created and hosted by MitoAction.
URL copied to clipboard!