Rare Disease Day Webinar: Learn How We Identified Novel Mutations for Mitochondriopathy

Please join us on a Webinar to learn how Ambry scientists and academic researchers worked together on a study to identify novel mutations responsible for causing a rare mitochondrial disease.  Results of this study were published in the journal Human Molecular Genetics¹. 

Led by the two principal investigators of this study, Dr. Sha Tang of Ambry Genetics and Dr. Taosheng Huang from the Cincinnati Children’s Hospital Center, this webinar will demonstrate the differing roles that a commercial and an academic lab played in this journey.  Learn how this exciting collaboration ultimately led to the development of a promising new treatment for patients with this rare and devastating disease.     

1. Peng, Y. et al. Identification of Biallelic Mutations in the Ferredoxin Reductase Gene Cause Novel Mitochondriopathy with Optic Atrophy.  Hum Mol Genet.2017 Dec 15: 26(24): 4937-50.