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Interpreting Genetic Testing

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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.

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About the Speaker

Richard Boles, MD

Richard Boles, MD

Richard G. Boles, M.D. 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 neurodevelopmental and functional disorders. Examples include autism, pain syndromes, chronic fatigue, cyclic vomiting, intestinal dysmotility/failure, and depression. He has over 80 published papers, mostly in mitochondrial medicine. He lives in the Los Angeles area.

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. 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, and was a Medical Director of Courtagen and Lineagen in the past. At present, Dr. Boles is the Director of the NeuroGenomics Program at Neurabilities (https://neurabilities.com/neurogenomics) in Voorhees, NJ, in which he consults on patients via telemedicine. About half of the patients he currently sees as a physician have one or 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 neurodevelopmental conditions. His clinical practice is devoted to using information, including genetic testing, to guide options for therapy. In addition to California and New Jersey, he is licensed in Arizona, Florida, and Pennsylvania, but with the current pandemic he can consult via telemedicine with patients anywhere in the USA. As part of the Peer-To-Peer Program, Dr. Boles can assist physicians to order, understand, and act on genetic testing data both nationwide and internationally. 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 EnergyNeeds® and SpectrumNeeds®, nutritional products with 40 and 33 active ingredients, respectively, designed for individuals with neurodevelopmental and functional disorders, with an emphasis on assisting mitochondrial function (www.neuroneeds.com).

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Last Presentation

Expert Series: Managing the Highs and Lows of Mitochondrial Disease: a review and updates on diabetes and hypoglycemia
Presented September 11, 2024

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