Director, Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai
For the past fifteen years, I have served Principal Investigator (PI) of Data Coordinating Center, as well as recruiting site PI for the 6 center NIDDK Inflammatory Bowel Disease Genetics Consortium (IBDGC), one of the most successful, long-standing genetics consortia. In this capacity, I have directed the recruitment and management of data and specimens across the NIDDK Consortium, as well as overseen recruitment of IBD patients at Mount Sinai. I was the senior investigator reporting the initial associations of NOD2 to Crohn’s disease, the IBD GWAS first identifying the interleukin 23 receptor associations, and the IBD Immunochip manuscript identifying 163 IBD-associated loci. I am particularly interested in defining the genetic architecture underlying the higher IBD prevalence among Ashkenazi Jews. Uncommon risk variants predominant in Ashkenazi populations (LRRK2, CSF2RB) as well as higher polygenic risk scores (driven by common variants, with genetic architectures similar to non-Jewish European ancestry populations). We are leading efforts in leveraging single cell technologies to advance understanding of pathophysiologic mechanisms in IBD. More recently, single cell RNASeq promises to transform our understanding of pathophysiologic mechanisms of human disease.
As Director of the Charles Bronfman Institute for Personalized Medicine (CBIPM), we have the primary goal of applying genetic and genomic discovery to benefit patients. A major accomplishment of IPM has been to harness the richness of the complex sources of clinical data obtainable from the electronic health records (EHR) for research purposes. The CBIPM oversees the School’s biobank, named BioMe, which currently contains over 45,000 patients and over 1,000,000 biosamples, for which we have whole exome sequencing and SNP-based chip data on over 31,000 patients. The capacity to re-contact patients in our biobank confers a particularly powerful means of re-sampling select patients carrying mutations of interest. Health-system based biobanks are the key pillar in leveraging the fruits from genome-wide association studies and large scale sequencing efforts.