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SELECTBIO Conferences NGS, SCA, SMA & Mass Spec: Research to Diagnostics 2016

Jennifer Friedman's Biography



Jennifer Friedman, Clinical Professor of Neurosciences and Pediatrics, Rady Children's Hospital in San Diego

Dr. Friedman serves as Clinical Professor of Neurosciences and Pediatrics at the University of California-San Diego. She is an expert in adult and pediatric movement disorders and has particular interest in genetic and metabolic disorders that affect movement. 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 and disability awareness education. In addition, she teaches medical students residents, fellows, and undergraduate students. Outside of Rady/UCSD, Dr Friedman is a strong proponent of education of children to improve understanding of and tolerance toward those with disabilities. In 2005, in partnership with the Del Mar Heights Elementary School, Dr. Friedman developed the Understanding Differences program a curriculum designed to teach K-6 children tolerance through a basic understanding of the biology of disease and disability and environmentally related factors that affect health and wellness. Dr. Friedman continues to run this program which has been awarded the 2008-2009 Program Award of Excellence award from the North Coastal County PTA as well as the 2010 California School Board Golden Bell Award. Dr. Friedman received her undergraduate training at Princeton University and earned her MD from Stanford University in 1991. 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. Dr. Friedman also serves as Clinical Professor in the UC San Diego Departments of Neurosciences and Pediatrics. Dr. Friedman is a diplomate of the American Board of Psychiatry and Neurology. She is a member of the American Academy of Neurology, the Movement Disorder Society, the Tourette Syndrome Association, and the Phi Beta Kappa National Honor Society.

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Genomics in Clinical Practice: Patient Stories from the Frontline

Tuesday, 27 September 2016 at 11:15

Add to Calendar ▼2016-09-27 11:15:002016-09-27 12:15:00Europe/LondonGenomics in Clinical Practice: Patient Stories from the FrontlineNGS, SCA, SMA and Mass Spec: Research to Diagnostics 2016 in San Diego, California, USASan Diego, California, USASELECTBIOenquiries@selectbiosciences.com

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.


Add to Calendar ▼2016-09-26 00:00:002016-09-28 00:00:00Europe/LondonNGS, SCA, SMA and Mass Spec: Research to Diagnostics 2016NGS, SCA, SMA and Mass Spec: Research to Diagnostics 2016 in San Diego, California, USASan Diego, California, USASELECTBIOenquiries@selectbiosciences.com