We run a research program on statistical genomics, with a dual focus on rare diseases and blood-related traits. The research themes of our group include:

1. Etiological discovery of rare diseases. We develop statistical and computational methods for identifying the genetic determinants of rare diseases in large cohorts of whole-genome or whole-exome sequenced patients, such as the 100,000 Genomes Project.
2. Genome sequencing of neonatal fatalities. In collaboration with Felix Richter, we work with a growing research network of neonatalogists, NICUnet, to study the genetic determinants of rare events in neonatal intensive care units.
3. Discovery and diagnosis of primary immunodeficiency. As part of the INTREPID research project, we integrate whole-genome sequencing, clinical information and an array of cellular and molecular data from patients with primary immunodeficiency (PID) to discover novel etiologies and return diagnoses to patients.
4. Modeling of intermediate molecular phenotypes. In collaboration with the NIHR BioResource, we develop and apply methods for statistical integration of genetic and various types of omics data (e.g. RNA-seq) from disease-relevant tissues in large cohorts of participants with rare diseases.
5. Understanding the genetic basis of variation in platelet reactivity. We are developing new ways of quantifying the propensity of platelets to activate and form clots in large, genetically charaterized cohorts, such as Mount Sinai’s BioMe Biobank.

We are grateful to Wellcome, the NIH NHLBI, the NIH NICHD and the Lowy Foundation USA for providing extramural funding supporting our work. We are also grateful to the Mindich Child Health and Development Institute and the Charles Bronfman Institute for Personalized Medicine for intramural support.