Exome Sequencing Leads to a Diagnosis in up to 40% of Critically-ill Neonates

  • We are pleased to have Zöe Powis of Ambry Genetics and Dr. Vockley from the University of Pittsburgh Medical Center as the webinar presenters. Zöe and Dr. Vockley authored a recently published paper titled, “Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis,” published in Genetics in Medicine1. They will discuss the key findings from this paper and provide additional details on the utility of exome testing in this vulnerable patient population.    

    1. Powis, Z et al. Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis. Genet Med, 2018 [Epub ahead of print].

Director, Center for Rare Disease Therapy
Chief, Medical Genetics

Dr. Vockley is the Chief in the Division of Medical Genetics, Director of the Center for Rare Disease Therapy, Professor of Pediatrics, University of Pittsburgh School of Medicine, Professor of Human Genetics, University of Pittsburgh Graduate School of Public Health and Cleveland Family Professor of Pediatric Research, University of Pittsburgh. 

Supervisor, Genomics Research

Ms. Powis completed her Bachelor of Science degrees in Molecular and Cellular Biology and Psychology at the University of Arizona. During that time, she worked in cancer research at the University of Arizona Cancer Center with laboratory projects specializing in cancer genetics. Prior to graduate school, Ms. Powis worked as substance abuse counselor. In 2003, she obtained her master's degree in Genetic Counseling from Northwestern University. Upon graduation, Ms. Powis worked in prenatal and infertility genetic counseling and as a laboratory genetic coordinator at Genzyme Genetics. Prior to joining Ambry, she worked 7 years at the University of Arizona, in pediatric, neuromuscular, metabolic, cancer, adult genetic counseling and various research projects. Ms. Powis joined the clinical reporting team in 2013 and due to her involvement in numerous research projects, transition to the research team in 2015. She oversees clinical genomics and neurology research, initiating and conducting collaborations in novel genetic etiologies, characterized genes and other specialties.

  • Fri, June 8, 2018
  • 10:00am PDT
  • Duration: 1 hour
  • C.E.U. --
  • P.A.C.E. --

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