BBS Faculty Member - Mark Daly

Mark Daly

Chief, Analytic and Translational Genetics Unit
Institute Member of the Broad Institute

Massachusetts General Hospital
Richard B Simches Building
185 Cambridge Street, CPZN 6818
Boston, MA 02114
Tel: 617-643-3290
Fax: 617-643-3293
Visit my lab page here.

Dr. Daly’s lab focuses on computational approaches to understanding the genetics of disease with a strategy of integrating powerful techniques from human and mouse genetics. The lab has extensive experience in linkage and association analysis and has focused efforts over the past decade on the development and analysis of variation resources such as HapMap, as well as tools and methods for design and interpretation of association studies using these maps. Recently, the focus has shifted towards the aggressive application of these approaches in major common disease areas, with particular focus on Crohn’s disease and autism.

The focus of Dr. Daly’s research has been and will continue to be the discovery of genes involved in human disease. He see’s this activity as the critical first step in the long term research agenda to which he is committed to first identify, then understand and finally therapeutically intervene in, the currently unknown pathways underlying common human disease. Ongoing research in his lab has two integrated arms. They have a continued, broad focus on computational and technological issues in gene discovery. This includes the characterization of patterns of mammalian genetic variation, interpretation and analysis of novel genotyping and sequencing technology data, creation of haplotype maps in humans and mice, and the development and implementation of statistical methodology necessary to use this information to study disease. Simultaneously, they both lead and collaborate with colleagues on the specific application of these techniques to study common human disease, emphasizing Crohn’s and autism in particular along with committed partnerships in other disease areas. The application of this work to human disease is a collaborative endeavor undertaken by my lab often in conjunction with labs with both clinical and molecular expertise locally and internationally. We place great emphasis on cross-disciplinary, comprehensive approaches to the genetics of human disease and we are committed to providing the statistical and computational expertise critical to many international gene mapping efforts as well as our own local efforts to pursue the results of these studies to bring them closer to clinical and therapeutic relevance.

Last Update: 12/7/2016


For a complete listing of publications click here.



Altshuler D, Daly MJ, Lander ES (2008). “Genetic mapping in human disease”. Science 322(5903):881-8.

Barrett JC, Hansoul S, Nicolae DL, Cho JH, Duerr RH, Rioux JD, Brant SR, Silverberg MS, Taylor KD, Barmada MM, Bitton A, Dassopoulos T, Datta LW, Green T, Griffiths AM, Kistner EO, Murtha MT, Regueiro MD, Rotter JI, Schumm LP, Steinhart AH, Targan SR, Xavier RJ; NIDDK IBD Genetics Consortium, Libioulle C, Sandor C, Lathrop M, Belaiche J, Dewit O, Gut I, Heath S, Laukens D, Mni M, Rutgeerts P, Van Gossum A, Zelenika D, Franchimont D, Hugot JP, de Vos M, Vermeire S, Louis E; Belgian-French IBD Consortium; Wellcome Trust Case Control Consortium, Cardon LR, Anderson CA, Drummond H, Nimmo E, Ahmad T, Prescott NJ, Onnie CM, Fisher SA, Marchini J, Ghori J, Bumpstead S, Gwilliam R, Tremelling M, Deloukas P, Mansfield J, Jewell D, Satsangi J, Mathew CG, Parkes M, Georges M, Daly MJ (2008). “Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease”. Nature Genetics 40(8):955-62.

Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ; the Autism Consortium (2008). “Association between Microdeletion and Microduplication at 16p11.2 and Autism”. New England Journal of Medicine 14;358(7):667-75.

International HapMap Consortium (2007). “A second generation human haplotype map of over 3.1 million SNPs”. Nature 18;449(7164):851-61.

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