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Christine Edry Seidman, MD
Senior Physician, Brigham and Women's Hospital
Thomas W. Smith Professor of Medicine, Harvard Medical School

Brigham and Women's Hospital
Department of Medicine
75 Francis Street
Boston, MA 02115

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Research Narrative:

The laboratory of Dr. Christine Seidman uses genetic techniques to study the molecular basis of cardiovascular diseases. A central project in the laboratory has been to understand the genetic basis of Familial Hypertrophic Cardiomyopathy (FHC; also called IHSS or ASH). FHC is inherited as an autosomal dominant trait and causes unexplained cardiac hypertrophy. Several years aso genetic linkage analyses were initiated that identified that a gene responsible for this disorder was located on chromosome 14q11-12. Subsequent studies demonstrated that the disease-causing mutation was in the gene encoding the ß cardiac myosin heavy chain (MHC) polypeptide. Approximately half of all families with FHC have missense mutations in the ß cardiac MHC gene, many of which are unique in unrelated families. In these families accurate pre-clinical diagnosis can be made from a blood test, even in children who are too young to demonstrate the hypertrophic phenotype by standard noninvasive techniques such as 2-dimensional echocardiogram. The precise ß cardiac MHC missense in affected individual correlates with life expectancy, thereby suggesting that genotype data may provide important clinical information to patients and physicians. The genetic basis for FHC in families without myosin mutations remains has recently been elucidated. Mutations in the a tropomyosin gene on chromosome 15 or cardiac troponin T gene on chromosome 1 can also cause familial hypertrophic cardiomyopathy. Collectively these data suggest that hypertrophic cardiomyopathy is a disease of the sarcomere. Murine models (produced via embryonic stem cell technologies) are being developed to study how these gene mutations produce cardiac hypertrophy.

A molecular genetic approach to the study of other human disorders is also ongoing. These included: Holt-Oram syndrome which causes ASD or VSD in the presence of skeletal abnormalities of the arm and hand; Familial Dilated Cardiomyopathies; Osler Weber Rendu syndrome which causes vascular malformations (also called hereditary hemorrhagic telangiectasia). Recently the genes responsible for these disorders have been mapped to chromosome 12 (Holt-Oram syndrome) and 1(Dilated Cardiomyopathy) and chromosome 9 (Osler Weber Rendu). Studies to identify the causal genes of these conditions are an area of active research.

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George Washington UNiversity, 1978, MD