Mark Daly Ph.D.

Assistant Professor of Medicine, Massachusetts General Hospital
Joined website 9 Dec 2007 1:01 PM
Mark Daly

Mark Daly

Mark J. Daly's work at the Massachusetts General Hospital/Harvard Medical School and the Broad Institute applies computational approaches toward understanding the genetics of disease by integrating powerful techniques from human and mouse genetics. The laboratory has extensive experience in linkage and association analysis and is focused on the creation of haplotype maps in humans and mice, the development of methods for design and interpretation of association studies using these maps, and the specific application of these approaches in major common disease areas such as diabetes, inflammatory/autoimmune and neuropsychiatric disease.

Dr. Daly’s group develops and actively supports GENEHUNTER and MAPMAKER/QTL software for performing linkage analyses and has released Haploview, which has become a standard for LD analysis, and is a primary analysis and visualization tool used in the HapMap Project. His grant from the foundation is for a comprehensive follow up of novel genetic discoveries in autism.

Website: massgeneral.org

Abstract

  • Comprehensive follow-up of novel autism genetic discoveries

    Comprehensive genetic studies offer the great promise that, for the first time, causal pathways can be identified and subsequently confidently targeted by drug discovery and model system exploration. Before concluding a gene is an autism risk factor however, absolute statistical rigor and confirmation of observations in independent samples is imperative. With colleagues at AGRE, the Autism Consortium and Johns Hopkins, we have recently completed a large genome-wide association study. Early on in this effort we identified one major risk factor (deletion/duplication of 16p11.2) which has been repeatedly independently replicated. We now have strong evidence for a number of additional SNPs and CNVs that await conclusive replication.

    To accomplish this validation, we will acquire the Simons Simplex Collection and perform follow-up experiments to explore and confirm the role of genes implicated in the genome-wide study including: Confirming top associated SNPs emerging from our study and meta-analyses of other studies; directly genotyping all equivalently associated novel copy-number variants; and performing resequencing of exons and evolutionary conserved near confirmed associations in large numbers of patients and controls followed by dense genotyping of existing and novel variants to comprehensively evaluate the role of common and rare gene variants in any implicated region.

    This study will provide the technical validation, statistical confirmation, and full exploration of the role of genetic variation in many regions newly discovered as causally linked to autism susceptibility ? providing a critical missing starting point for downstream research to understand the mechanisms of pathogenesis and develop treatments and preventives.

Institution

Mark Daly in the news