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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.

Spotlight

IHG Postdoc Navneet Matharu Awarded Two Top Prizes

Navneet Matharu, PhD

Navneet Matharu, PhD received the 2017 Charles J. Epstein Trainee Award for Excellence in Human Genetics Research at the annual meeting of the American Society of Human Genetics, as well as a prize for the winning abstract presented at IHG’s Fall Genetics Day 2017 for her work entitled “Promoter or enhancer activation by CRISPRa rescues haploinsufficiency caused obesity”.

Navneet tells an exciting story about developing CRISPR activation based therapeutic approach to treat dosage sensitive diseases. She shows that dosage upregulation can be achieved by targeting gene regulatory elements of one functional copy of haploinsufficient gene using CRISPRa. To show proof of concept of this approach in mouse, she uses a haploinsufficient gene SIM1 that leads to severe obesity in humans and mice. Her findings show that CRISPRa specificity can be achieved by targeting tissue specific regulatory elements, like SIM1 promoter or its long-range hypothalamic enhancer to rescue obesity. She developed CRISPRa-AAV based translational tools to show that SIM1 obesity can be rescued postnatal. This simple and elegant approach can be promising for treating haploinsufficient diseases.

Navneet Matharu is a postdoctoral fellow in the laboratory of Nadav Ahituv, PhD in the Department of Bioengineering and Therapeutic Sciences at UCSF.

Postdoc Slam Article | Slam Talk [23:37] | Graduate Division Tweet

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