MitoAction
Support, Education, Outreach and Advocacy for Children and Adults Living with Mitochondrial Disease
Expert Series: Extensive DNA Sequencing in Cyclic Vomiting and Chronic Fatigue: Implication for Genetic Testing and Personalized Treatment Options
June 7 @ 12:00 pm – 1:00 pm EDT
In May, 2023, Dr. Boles and his research group published a scientific paper on the results of 50 people who 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 (positively charge salts) channels or mitochondria (energy metabolism), suggesting that disease results from a vicious cycle of cellular over-excitation. 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.
About the Speaker
Richard Boles, M.D.
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).
