ASHG_footer_logoUCSF Reception at
American Society of Human Genetics (ASHG) Symposium
Monday, October 20 @ 8pm – 11:30pm


Marriott Marquis & Marina in San Diego
Del Mar Room (South Tower, Level 3)
Hosted by: Institute for Human Genetics, Genomic Medicine and Department of Pediatrics, Medical Genetics
Information: lynn.duncan@ucsf.edu or 415.476.2470

Suzanne Cassidy, MD will be awarded the ASHG Award for Excellence in Human Genetics Education
October 20 @ 8:30amAward Presentation details | Press Release

ASHG 2014 is Oct 18-22 in San Diego | ASHG 2014 symposium website

The UCSF Institute for Human Genetics (IHG) serves as the hub for all activities in human genetics at the University of California, San Francisco.

OUR MISSION is to create an exciting, productive, and collaborative environment for research, training, and clinical application in human genetics.

Our faculty span all four schools (Dentistry, Medicine, Nursing, Pharmacy), and many departments within those schools, reflecting the broad importance of human genetics both in basic scientific research and in modern day health care. The sequencing of the human genome, accompanied in recent years with the dramatic reduction in cost for obtaining an individual’s genome sequence, augurs a new era in translational human genetics, impacting not only rare, Mendelian diseases but effectively all diseases affecting the human population. The IHG and its members intend to be in the forefront of these transformational developments.


Predicting Disease — Using Big Data for Precision Medicine

Predicting Disease — Using Big Data for Precision Medicine

Knowledge is power.  Joseph Shieh MD, PhD and his colleagues are developing new tools to leverage big data for precision medicine. In their recent studies, Dr. Shieh, a genomics physician at UCSF, and colleagues Xiaoyan Ge, PhD and Pui-Yan Kwok MD, PhD teamed up to produce practical tools for healthcare application.

We’re using smart tools to predict disease by analyzing vast amounts of genetic sequence data,” said Dr. Shieh. Building on a foundation from human genome projects and global population sequencing efforts, the team from UCSF set out to examine thousands of human protein-encoding genes for disease-prediction patterns. Science has deciphered a fraction of the genes that affect health, but with exome technologies advancing, Shieh and his colleagues have developed new predictive tools to analyze variation patterns in thousands of genes. Remarkably, they found genes on the X-chromosome, a sex chromosome, are highly influential in early-onset diseases and harbor many novel disease markers useful for disease prediction. Paper

The power of informatics and genetics to predict human disease is remarkable,” Ge, a post-doctoral fellow with Dr. Shieh, stated. The team would like to expand the work and use of smart tools to revolutionize care in settings such as the UCSF Genomics Clinic, where Dr. Shieh sees his patients. “There are more than twenty thousand genes in the genome and we can now decode that genetic information, but we need to leverage the knowledge for patients,” Shieh remarked. “These efforts forward care for undiagnosed disease patients, and we should also advance children’s health, preterm birth studies, and preventive care in adults using this collective knowledge.”

Paper Abstract | Joseph Shieh | Pui-Yan Kwok | IHG Genomics Tools
UCSF Genetics CareBenioff Children’s Hospital | NIH

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