Search Results: MCH Organizations

This list of organizations is drawn from the MCH Organizations Database. Contact information is the most recent known to the MCH Digital Library.

Displaying records 1 through 3 (3 total).

Center for Jewish Genetic Diseases

Annotation: The Center for Jewish Genetic Diseases (formerly the National Foundation for Jewish Genetic Diseases) at The Mount Sinai Medical Center is devoted to the study of diseases that affect Ashkenazi Jews. The Center's missions are: (1) to improve the diagnosis, treatment, and counseling of patients and their families suffering from Jewish genetic diseases and (2) to conduct intensive research to combat these inherited diseases. The Center publishes scientific articles, presents papers at national meetings, sponsors international meetings, and collaborates with other researchers in the process of making discoveries and developing therapies.

Keywords: Bloom syndrome, Canavan disease, Familial dysautonomia, Gauchers disease, Information dissemination, Metabolic diseases, Mucolipidosis, Niemann Pick disease, Public awareness materials, Tay Sachs disease, Torsion dystonia

National Gaucher Foundation (NGF)

Annotation: The National Gaucher Foundation (NGF) promotes and supports medical research and clinical programs to find a cure for Gaucher disease. The foundation works to increase public awareness of Gaucher disease through an educational campaign and provides information and assistance to self-help groups. Services to consumers include referrals, publications, and reference information. NGF sponsors regional programs and publishes the Gaucher Disease Newsletter. The Foundation also offers pamphlets, materials on genetic background, and audiovisual materials. Some materials are available in Spanish and Russian.

Keywords: Gauchers disease, Metabolic diseases

University of Pittsburgh , Department of Human Genetics

Annotation: The University of Pittsburgh Department of Human Genetics formerly known as the University of Pittsburgh Molecular Genetics Diagnostic Laboratory/CLSI provides information and counseling on Gaucher disease and other genetic disorders including cystic fibrosis, Fanconi Anemia, Canavan Disease, Tay Sachs. Testing, treatment, and counseling services are provided. Services to consumers also include referrals, publications and reference information. The organization publishes a journal and a newsletter, and it sponsors training seminars.

Keywords: Gauchers disease, Genetic counseling, Genetics, Metabolic diseases