Genome Sequencing in the Clinic: Promises and Pitfalls


Advances in genome sequencing hold tremendous promise for providing answers, tailored therapies and in some case cures for undiagnosed patients. However, how to interpret and act upon volumes of complex genomic data remains a challenge for sequencing providers, physicians and their patients and families. Uncertain and non-validated results present obstacles in attaining goals of diagnosis and cure. Off-target results may create unforeseen medical and ethical challenges. This presentation will use case-based examples to demonstrate promises and pitfalls encountered in application of genomic sequencing to diagnosis of patients with rare disease.


Jennifer Friedman, M.D.
Rady Children’s Hospital
Dr. Friedman serves as Clinical Professor of Neurosciences and Pediatrics at University of California San Diego. She is an expert in adult and pediatric movement disorders and has particular interest in the application of genomics to diagnosing rare disease. She is a partner in the International working group for neurotransmitter and pterin disorders. She directs the Movement Disorders Clinic and Tourette/Tic Disorder Center at Rady Children’s Hospital and has done research in the areas of neuro-genetics/genomics, Tourette’s Syndrome, Mitochondrial Disease and disability awareness education. Outside of Rady/UCSD, Dr Friedman in partnership with the Del Mar Heights Elementary School, developed the Understanding Differences program to improve understanding of and tolerance toward those with disabilities.

Dr. Friedman received her undergraduate training at Princeton University and her MD from Stanford University. She completed an internship in internal medicine at Santa Clara Valley Medical Center followed by residency in neurology at Harvard Longwood Training Program. She was a clinical fellow in Movement Disorders at Boston University Medical Center and a clinical and research fellow in Neurogenetics and dystonia at Massachusetts General Hospital. She served as a neurologist at several Boston hospitals and was an Instructor in Neurology at Harvard Medical School before joining Rady Children’s Hospital in San Diego as senior staff neurologist in 2004 and UCSD in 2008.



Date & Time

Wed, 04/06/2016 at 5:00-7:00 PM

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