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 these genes involved cation (kat·ai.aan) (positively-charge salts) channels or mitochondria (energy metabolism), suggesting that disease results from a vicious cycle of cellular over-excitation(x-cytation). 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.
Genetic Testing – Genome Sequencing: A-Z for Mitochondrial Disease
Join MitoAction, Laura Pisani-Betancourt and Kristin Voorhees from Ultragenyx Pharmaceutical on Friday, July 9th, 2021 at 12:00pm EST for our monthly expert series presentation!...
Dr. Michio Hirano, Chief of the Neuromuscular Division at Columbia University Medical Center, and Kris Engelstad MS CGC, a board-certified genetic counselor and program...