Genetics, Genomics & Mitochondrial DNA Testing

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Tools for Testing Mitochondrial Disorders: The Latest Advances in Genetics and Genomics

Guest speaker Dr. Richard Boles from Children’s Hospital Los Angeles and Courtagen Life Sciences, Inc. to discuss:

  • What is genomic sequencing and how does it change testing for mitochondrial disorders?
  • Is NextGen testing appropriate for all people with suspected mitochondrial disease?
  • How can DNA sequencing change information available about family inheritance of mitochondrial diseases?
  • Do advances in genomic sequencing impact treatment options for Mito patients?

About The Speaker:

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, Director of the Metabolic and Mitochondrial Disorders Clinic at Children’s Hospital Los Angeles, and Medical Director at Courtagen Life Sciences Inc. Dr. Boles practices the “bedside to bench to bedside” model of a physician-scientist, combining a very active clinical practice in metabolic and mitochondrial disorders with basic research as Director of a mitochondrial genetics laboratory at the Saban Research Institute. Dr. Boles’ clinical and research focus is on polymorphisms (common genetic changes) in the maternally-inherited mitochondrial DNA, and with new technology in the nuclear DNA (chromosomes), and their effects on the development of common functional disorders. Examples include migraine, depression, cyclic vomiting syndrome, complex regional pain syndrome, autism and SIDS. He has 50 published papers on mitochondrial disease. Dr. Boles is responsible for the final review of DNA sequences at Courtagen.

Date: 08/03/2012
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