Search Results: MCH Organizations

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

Annotation: The Foundation for Ichthyosis and Related Skin Types (FIRST) is a national non-profit organization dedicated to helping individuals and familes affected by ichthyosis. Ichthyosis is a rare genetic skin disease characterized by very dry, cracked, scaling, and thickened skin. The Foundation provides support, information, education, and advocacy for its members. The Foundation supports research into causes, treatment, and cures for ichthyosis. Informational brochures and booklets are available in English and Spanish. The Foundation also publishes a newsletter and sponsors conferences.

Keywords: Chanarin-Dorfman Syndrome, Chondrodysplasia Punctata Syndromes, Colloidion baby, Darier disease, Epidermal Nevus syndrome, Epidermolytic Hyperkeratosis, Erythrokeratodermas, Ichthyosis, Keratitis-Ichthyosis-Deafness (KID) syndrome, Multiple Sulfatase Deficiency, Palmoplantar Keratoderma syndromes, Peeling skin syndrome, Pityriasis Rubra Pilaris, Refsum disease, Rud syndrome, Skin diseases, Tay Sachs disease

Annotation: The National Tay-Sachs and Allied Diseases Association (NTSAD) is dedicated to the treatment and prevention of Tay-Sachs and related genetic diseases, and to providing information and support services to individuals and families affected by these diseases, as well as the public at large. Publications include Tay-Sachs Is (English and Russian),Services to Families, What Every Family Should Know, an international Directory of Tay-Sachs Carrier Testing Facilities, a home care manual and a biannual newsletter, Breakthrough. Audiovisual materials include For My Sister, Elyssa and Jewish Genetic Diseases. NTSAD also sponsors conferences.

Keywords: A-Beta-Lipoproteinemia, Fabrys disease, Krabbe disease, Lysosomal diseases, Metabolic diseases, Nervous systems diseases, Niemann Pick disease, Sandhoff disease, Tay Sachs disease