I came to Genentech in 2007 with the goal of applying human genetics to identify pathways associated with disease and response to therapies. The sequencing of the human genome and subsequent rapid advances in genotyping and high-throughput sequencing technologies allow fundamental questions about the role of human genetics in complex diseases to be asked.
The Human Genetics group is focused on utilizing the latest advances in genotyping, DNA sequencing, population genetics and bioinformatics to understand disease biology and discover novel therapeutic targets.
Being a mentor to a post-doctoral fellow is one of the most rewarding experiences as a Scientist at Genentech. In my lab, we are currently working on understanding the biology of rare human variants that we have identified that increase risk of or protect from Alzheimer’s disease and Parkinson’s disease. Using a range of in vitro techniques, as well as creating animal models, we hope to better understand the mechanism behind how these human variants impact disease risk.
Nat Med. 2014 Dec;20(12):1452-7.
In the OMNI Human Genetics group, we are focused on common, complex diseases that have an unmet medical need, including autoimmune and neurodegenerative diseases.
Our group has 3 main goals. 1) Understanding the genetic basis of disease to aid in target discovery. We are working to discover novel genetic variants that predispose to human disease by multiple techniques including; large genome-wide association studies using SNP-arrays, family-based studies that employ linkage analysis and next-generation sequencing, and deep sequencing of individuals in the extremes of clinically-relevant phenotypes. We are involved in large-scale projects that have the goal of identifying the causal variant within regions associated with disease and understanding the biology of risk variants. 2) Identifying genetic markers of disease progression and severity. We are very interested in exploring using genetic risk or burden scores as a tool to predict disease progression and severity with the goal of improving clinical trial design. 3) Pharmacogenetics of Genentech therapies. We are working to discover genetic markers of associated with a positive response to therapy and, perhaps more importantly, to identify and understand markers of inadequate response that may lead to novel therapeutic targets.