Dr. Craig Basson's goals are to learn fundamental techniques of molecular biology and genetics to establish an academic career as an independent investigator in the field of molecular genetics of human congenital and inherited cardiovascular disease. Congenital cardiac and upper limb malformations frequently occur in association (heart-hand syndromes), the most common of which is the autosomal dominant disorder Holt-Oram Syndrome. The genetic linkage analysis of the Holt-Oram Syndrome has previously mapped the disease gene locus (HOS) to human chromosome 12q with a combined multipoint LOD score of 25. This research program will be conducted under the sponsorship of Dr. Christine E. Seidman within the Cardiovascular Division, Department of Medicine, Brigham and Women's Hospital. Dr. Seidman's laboratory has extensive experience in determining the molecular genetic etiologies of inherited cardiovascular diseases; Dr. Seidman's investigation has identified mutations in three sarcomeric genes that produce familial hypertrophic cardiomyopathy. Dr. Basson's training and research efforts will benefit not only from access to the facilities and expertise of the Division and Dr. Seidman's laboratory but also from the advice and talents of his advisory committee (Drs. Jonathan Seidman, Clifford Tabin, and Thomas W. Smith) as well as the proximity of active programs in molecular genetics and developmental biology on the Harvard Medical School campus.

Agency
National Institute of Health (NIH)
Institute
National Heart, Lung, and Blood Institute (NHLBI)
Type
Clinical Investigator Award (CIA) (K08)
Project #
5K08HL003468-05
Application #
6182501
Study Section
Research Training Review Committee (RTR)
Project Start
1996-07-01
Project End
2001-06-30
Budget Start
2000-07-01
Budget End
2001-06-30
Support Year
5
Fiscal Year
2000
Total Cost
$121,500
Indirect Cost
Name
Weill Medical College of Cornell University
Department
Internal Medicine/Medicine
Type
Schools of Medicine
DUNS #
060217502
City
New York
State
NY
Country
United States
Zip Code
10065
Vaughan, C J; Delanty, N; Basson, C T (2001) Do statins afford neuroprotection in patients with cerebral ischaemia and stroke? CNS Drugs 15:589-96
Hatcher, C J; Kim, M S; Mah, C S et al. (2001) TBX5 transcription factor regulates cell proliferation during cardiogenesis. Dev Biol 230:177-88
Vaughan, C J; Weremowicz, S; Goldstein, M M et al. (2000) A t(2;19)(p13;p13.2) in a giant invasive cardiac lipoma from a patient with multiple lipomatosis. Genes Chromosomes Cancer 28:133-7
Vaughan, C J; Gotto Jr, A M; Basson, C T (2000) The evolving role of statins in the management of atherosclerosis. J Am Coll Cardiol 35:10-Jan
Vaughan, C J; Basson, C T (2000) Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus. Am J Med Genet 97:304-9
Hatcher, C J; Kim, M S; Basson, C T (2000) Atrial form and function: lessons from human molecular genetics. Trends Cardiovasc Med 10:93-101
Hatcher, C J; Goldstein, M M; Mah, C S et al. (2000) Identification and localization of TBX5 transcription factor during human cardiac morphogenesis. Dev Dyn 219:90-5
Basson, C T; Huang, T; Lin, R C et al. (1999) Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. Proc Natl Acad Sci U S A 96:2919-24
Benson, D W; Sharkey, A; Fatkin, D et al. (1998) Reduced penetrance, variable expressivity, and genetic heterogeneity of familial atrial septal defects. Circulation 97:2043-8
Casey, M; Mah, C; Merliss, A D et al. (1998) Identification of a novel genetic locus for familial cardiac myxomas and Carney complex. Circulation 98:2560-6

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