Speaker Profile

M.D., Ph.D., Co-Director of the Personalized Genomics Clinic, University of California San Francisco

Dr. Joseph Shieh is co-directs the Personalized Genomics Clinic at the University of California San Francisco. His research laboratory is in the Institute for Human Genetics at UCSF. His team has discovered multiple new gene associations with novel disorders using emerging genomic technology. Dr. Shieh received his undergraduate degree from Stanford University, and he received his PhD in Immunology and his MD at the University of Pennsylvania . He trained in Pediatrics at the University of Washington and Seattle Children’s Hospital and then in Clinical Medical Genetics and Genomics at Stanford and UCSF. Dr. Shieh is an expert on rare disease diagnostics, genomic informatics and clinical management. He is member of the NIH consortium on newborn sequencing and the consortium for Clinical Sequencing Effectiveness Research. His research has established new informatic methods to analyze large population datasets to inform discovery in undiagnosed diseases.

Genomic Profiling Showcase: UCSF
The University of California San Francisco is dedicated to promoting health worldwide through biomedical research, education and patient care.

Harnessing Population and Genomic Data for Undiagnosed Diseases
By utilizing genomic profiling technology, we can now diagnose complex patients more accurately. Dr. Shieh will discuss recent advances in sequencing for clinical diagnostics. Using informatic assessment of population genomic data, we can discover novel gene-disease associations and targets.

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