Bloom Syndrome

 

Who to Contact

 

Bloom's Syndrome Foundation
7095 Hollywood Blvd. #583
Los Angeles, CA 90028
http://www.bloomssyndrome.org/

Bloom's Syndrome is a very rare inherited genetic disorder, caused by a gene that does not function properly. This creates an unusually high number of breaks or instability along their chromosomes (the structures in the cells of our body that contain our hereditary material - called DNA). This instability causes short stature, immune system deficiencies leading to frequent respiratory and bronchial infections, patchy facial skin colorations, sensitivity to sunlight, sterility, and worst of all, an extraordinarily high risk to develop many cancers and leukemia, at early ages.

Bloom's Syndrome is most common in Jews of Eastern European decent - (Ashkenazi Jews) - and therefore is often classified as a Jewish Genetic Disease.

The Foundation's goal is to fund research aiming at the development of a therapy for Bloom's Syndrome and the prevention of its complications, primarily the significant risk of developing cancers at early ages.


 

 
Bloom's Syndrome Registry
NY Blood Center
310 East 67th Street
New York, NY 10021
(212) 570-3075
Fax: (212) 570-3195
http://med.cornell.edu/bsr/

This is a research effort dedicated to collecting clinical and genetic information about Bloom’s Syndrome, a rare inherited disorder characterized by short stature; a sun-sensitive redness in a "butterfly pattern" on the face; and susceptibility to infections and proness to develop cancer of many types. Established in 1960, the Bloom’s Syndrome Registry meets with affected individuals and their families, compiles information concerning their pedigree history, and collects and preserves DNA and biological specimens. In addition, the Registry maintains copies of affected individuals’ medical records and updates these records with new clinical findings and medical progress. The Registry conducts ongoing research using registry data and speciment and publishes regular reports and reviews in medical journals.

 

Center for Genetic Jewish Disease
Mount Sinai Medical Center
Fifth Avenue at 100th Street
New York, NY 10029
212-659-6774
http://www.mssm.edu/jewish_genetics/

This is a not-for-profit voluntary health and research organization devoted to supporting medical research and informing the public and medical communities about the seven most common Jewish genetic diseases. These diseases include Gaucher Disease, Dystonia, Familial Dysautonomia, Tay-Sach’s Disease, Bloom Syndrome, Niemann-Pick Disease, and Mucolipidosis IV. The National Foundation for Jewish Genetic Diseases aims to advance progress toward the cure and/or prevention of these disorders. The major efforts of the Foundation are directed to help physicians and researchers understand the nature of these rare genetic diseases so that newer and better means of diagnosis, management, treatment, and prevention can be developed. Informational fact sheets on each of these diseases are produced by the Foundation and describe the specific nature of the genetic defect, diagnostic tests, and available disease management and treatments. The National Foundation for Jewish Genetic Diseases also supports research and training programs through endowed scholarship programs and direct funding to academic and medical research centers.

 

 

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