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Aravinda Chakravarti, Ph.D.

Photo of Dr. Aravinda Chakravarti, Ph.D.

Director, Center for Complex Disease Genomics

Professor of Medicine

Research Interests: Molecular basis of complex disease

Contact for Research Inquiries

Johns Hopkins University School of Medicine
Institute of Genetic Medicine
733 N. Broadway
Baltimore, MD 21287 map
Phone: 410-502-7525
Fax: 410-502-7544


Aravinda Chakravarti, Ph.D. is Professor of Medicine, Pediatrics, Molecular Biology & Genetics, and, Biostatistics at the Johns Hopkins University School of Medicine and the Bloomberg School of Public Health. He was the 2008 President of the American Society of Human Genetics, is a member of the US National Academy's Institute of Medicine and an Honorary Fellow of the Indian Academy of Sciences. He has been a key participant and architect of the Human Genome, HapMap and 1000 Genomes project. His research is aimed at genome-scale analysis of humans and computational analysis of gene variation and function to understand the molecular genetic basis of complex human disease. 

Aravinda Chakravarti received his doctoral degree in human genetics in 1979 and started his faculty career at the University of Pittsburgh (1980 - 1993), was the James H. Jewell Professor of Genetics at Case Western Reserve University (1994-2000), and the Director and Henry J. Knott Professor of the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins (2000-2007). He is one of the founding Editors-in-Chief of Genome Research and Annual Reviews of Genomics & Human Genetics, and serves on the boards of numerous international journals, academic societies, the NIH and biotechnology companies. more


  • Director, Center for Complex Disease Genomics
  • Professor of Medicine
  • Joint Appointment in Molecular Biology and Genetics
  • Professor of Pediatrics

Research & Publications

Research Summary

My laboratory focuses on the development and applications of molecular genetic, genomic and computational methods for identification of human disease genes through "genetic dissection".   We use a variety of disease models to infer the features of complex disease gene architecture in birth defects (Hirschsprung disease), cardiovascular disorders (hypertension, sudden cardiac death) and mental illness (autism, bipolar disease, schizophrenia). Common human diseases, be they birth defects, diabetes, cardiovascular disease, infectious disease, psychiatric illness or neurodegenerative disease, are familial and arise from a combination of genetic and environmental factors. The familial nature of most diseases suggests an underlying genetic susceptibility, but environmental, stochastic and epigenetic factors are also critical. Additional genetic hallmarks of complex disorders are that the underlying mutations are neither necessary nor sufficient for the development of disease, and that these mutations are common in the general population. Contemporary genomic methods and perspectives, using the human genomic sequence, comparative sequence from many other vertebrates, a genome-wide map of polymorphic sites (The International HapMap Project) are all critical elements of this genetic dissection. In particular, we are developing a paradigm for the genetics of common mutations.


The Aravinda Chakravarti Laboratory focuses on the development and applications of genetic, genomic, and computational technologies and perspectives for gene discovery in a variety of complex human diseases. Our goal is to assess how genomic information can be used in modern clinical medicine in the era of personalized medicine. Specifically, we use a variety of disease models to infer the features of complex disease gene architecture in two developmental disorders of neuronal function (Hirschsprung disease, autism) and two late age-at-onset cardiovascular disorders (hypertension, sudden cardiac death).

Technology Expertise Keywords

Genomics, Population genetics, Computational biology

Selected Publications

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Kerem B-S, Rommens JM, Buchanan J, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui L-C: Identification of the cystic fibrosis gene: Genetic analysis. Science 245:1073-1080,1989.

Lupski JR, Montes de Oca-Luna R, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O,Barker DF, Killian JM, Garcia CA, Chakravarti A, Patel PI: DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66:219-232, 1991.
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Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, Chakravarti A: A missense mutation of the Endothelin-B Receptor Gene in Multigenic Hirschsprung's Disease. Cell 79:1257-1266, 1994.

Halushka MK, Fan J-B, Bentley K, Hsie L, Weder A, Cooper R, Lipshutz R, Chakravarti A:Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nature Genetics 22:239-247, 1999.
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Hong H-K, Noveroske JK, Headon DJ, Liu T, Sy M-S, Justice MJ, Chakravarti A: The winged helix/forkhead transcription factor Foxq1 regulates differentiation of hair in satin mice. Genesis 29:163-171, 2001.
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Carrasquillo MM, McCallion AS, Puffenberger EG, Kashuk CS, Nouri N, Chakravarti A Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. Nature Genetics 32:237-244, 2002.
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McCallion AS, Stames E, Conlon RA, Chakravarti A: Phenotype variation in two-locus mouse models of Hirschsprung disease: Tissue-specific interaction between Ret and Ednr. Proceedings of the National Academy of Science (USA) 100:1826-1831, 2003.
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Lin S, Chakravarti A Cutler DJ: Exhaustive allelic disequilibrium tests are a new approach to genome-wide association studies. Nature Genetics 36:1181-1188, 2004.
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Emison ES, McCallion AS, Kashuk CS, Bush RT, Grice E, Lin S, Portnoy ME, NISC Comparative Sequencing Program, Cutler DJ, Green ED,C hakravarti A: A common, sex-dependent mutation in a putative RET enhancer underlies Hirschsprung disease susceptibility. Nature 434:857-863, 2005.
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The International HapMap Consortium : Haplotype Map of the Human Genome. Nature 437:1299-1320, 2005.

Activities & Honors

Professional Activities

  • Editorial Boards, Current Biology, 1995
  • Editorial Boards, Annual Review Of Genomics & Human Genetics, 1995
  • Editorial Boards, Indian Journal Of Human Genetics, 1995
  • Editorial Boards, Journal Of Genetics, 1995
  • Editorial Boards, European Journal Of Human Genetics, 1995
  • Awards Committee & Chair, American Society Of Human Genetics , 2001 - 2004
  • Baker Lecturer, Penn State University, 2001
  • Bluestone Lecturer, American Society of Pediatric Otolaryngology, 2003
  • Board of Directors, American Society Of Human Genetics , 1996 - 1998
  • Co-Editor-in Chief, Genome Research, 1995
  • Distinguished Alumnus, Graduate School of Biomedical Sciences, 1997
    University of Texas Health Science Center at Houston
  • Mouse Genomics and Genetics Scientific Panel, NIDDK and Trans-NIH 
    Executive Zebrafish Advisory Committee
  • National Advisory Council & Chair, National Human Genome Research Institute, National Institutes of Health, 1997 - 2000
    National Advisory Council
  • Nominations Committee, American Society Of Human Genetics , 2001
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