Rare Disease Day Webinar: Learn How We Identified Novel Mutations for Mitochondriopathy with Sha Tang, Ph.D., DAGMG and Taosheng Huang, MD, Ph.D.

  • 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.

Sha Tang Profile Picture

Sr. Laboratory Director, Clinical Genomics, Ambry Genetics


Taosheng Huang

Director of the Program of Mitochondrial Medicine, Cincinnati Children’s Hospital Center


  • Wed, February 28, 2018
  • 12:00pm PST
  • Duration: 1 hour
  • C.E.U. --
  • P.A.C.E. --

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