MitoAction Expert Series

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 of LCHADD.

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 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.

Join MitoAction and Dr. Mark Tarnopolosky to discuss:

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?

-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?

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).

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:

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.

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.

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, attending physician in Medical Genetics and General Pediatrics at Childrens Hospital Los Angeles, and Medical Director of Courtagen Life Sciences.