Professor |  |
| Contact | Education | Interests | Research | Activities | Leadership | Publications | Lab | |
B.Stat., Indian Statistical Institute, Calcutta, 1974
Ph.D., University of Texas, 1979
Postdoc, University of Washington, 1980
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.
- Molecular basis of complex disease
- Genomics
- Population genetics
- Computational biology
- Preceptor, Predoctoral Training Program in Human Genetic
- Instructor, Short Course in Medical and Experimental Mammalian Genetics, The Jackson Laboratory
- Instructor, Genetic Dissection of Complex Diseases, Predoctoral Training Program in Human Genetics
- Public Speaker, Genetics, Genomics, Human Variation, Complex Disease
- Textbook Chapter: Chakravarti A, Lyonnet S: Hirschsprung Disease. Chapter 251 in
The Metabolic and Molecular Bases of Inherited Disease, 8th ed. Scriver CR, Beaudet AR, Sly W,
Valle D (eds), McGraw-Hill, New York, 2001 - Textbook Chapter: Chakravarti A, Lyonnet S: Hirschsprung Disease. Chapter 251 in The Metabolic and Molecular Bases of Inherited Disease, 8th ed. Scriver CR, Beaudet AR, Sly W, Valle D (eds),McGraw-Hill, New York, 2001.
Recognition and Leadership Roles:
- Co-Editor-in Chief, GENOME RESEARCH (Richard Gibbs, Eric Green and Rick Myers), 1995 - present; Editorial Boards, CURRENT BIOLOGY, ANNUAL REVIEW OF GENOMICS & HUMAN GENETICS, INDIAN JOURNAL OF HUMAN GENETICS, JOURNAL OF GENETICS, EUROPEAN JOURNAL OF HUMAN GENETICS
- Awards Committee & Chair (2001-2004), Nominations Committee (2001), and Board of Directors (1996-1998), AMERICAN SOCIETY OF HUMAN GENETICS
- Mouse Genomics and Genetics Scientific Panel, National Institutes of Health, 2000- ; Executive Zebrafish Advisory Committee, NIDDK and Trans-NIH
- Zebrafish Coordinating Committee, 1997-2000
- National Advisory Council & Chair, Subcommittee on IIIrd 5-year Genome Project plan, National Advisory Council, National Human Genome Research Institute, National Institutes of Health, 1997-2000
- Distinguished Alumnus, University of Texas Health Science Center at Houston, Graduate School of Biomedical Sciences, Houston, Texas, 1997: Baker Lecturer, Penn State University, 2001; Bluestone Lecturer, American Society of Pediatric Otolaryngology, 2003.
- 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. Abstract - 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. Abstract
- 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. Abstract
- 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. Abstract
- 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. Abstract
- 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. Abstract
- 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. Abstract
- 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. Abstract
- Emison ES, McCallion AS, Kashuk CS, Bush RT, Grice E, Lin S, Portnoy ME, NISC Comparative Sequencing Program, Cutler DJ, Green ED, CHAKRAVARTI A: A common, sex-dependent mutation in a putative RET enhancer underlies Hirschsprung disease susceptibility. Nature 434:857-863, 2005. Abstract
- The International HapMap Consortium : A Haplotype Map of the Human Genome. Nature 437:1299-1320, 2005. Abstract
Aravinda Chakravarti, PhD
Johns Hopkins University School of Medicine
Institute of Genetic Medicine
733 N. Broadway
Edward D. Miller Research Building, Suite 579
Baltimore, MD 21287Phone: (410) 502-7525
Fax: (410) 502-7544
E-Mail: aravinda@jhmi.edu
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