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.
When a genetic variant is shared by only a handful of individuals worldwide, what does it mean for diagnosis, treatment, and research? In this...
How can children, teens and adults with mitochondrial disease EXERCISE, especially if fatigue and exercise intolerance are hallmark symptoms of the disease? Metabolic Nurse...
Cheryl M. Clow RN discusses Getting Through the Day with Mito: Treatments, Supplements, and Humor. Topics of discussion include: Patient care considerations and making...