Search Results: MCH Organizations

Annotation: The Alpha-1 Association is a member-based nonprofit organization founded in 1991 to identify those affected by Alpha-1 Antitrypsin Deficiency (Alpha-1) and to improve the quality of their lives through support, education, advocacy, and research. The association has over 60 volunteer-led support groups around the US which are supported through annual grass roots grants. The education program includes an annual national conference and co-sponsorship of regional Alpha-1 Education Days with the Alpha-1 Foundation. The advocacy program focuses on access to care; maintaining and extending Medicare benefits; genetic non-discrimination; increasing public health funding; traveling with supplemental oxygen; organ allocation for lung transplantation and includes working with the Congressional COPD Caucus to further its goals.

Keywords: Alpha-1-antitrypsin deficiency, Metabolic diseases, Patient identification

Annotation: The Chromosome 18 Registry and Research Society is a nonprofit educational and research organization that locates people with chromosome 18 anomalies, educates families and the public on the prognosis and treatment of related disorders, links these families and their physicians to the research community, and encourages, conducts, and publishes research on topics that affect these families. The society maintains a database of families and interested persons, sponsors an annual conference, operates a parent network, and publishes a newsletter, Chromosome 18 Communiqué. The society sponsors a list service that is open to the public through their web site and also offers responses to inquiries from consumers.

Keywords: Chromosome abnormalities, Chromosome 18, Edwards syndrome, Genetic disorders, Health education, Listservs, Medical research, Medical research, Patient identification, Ring 18, Tetrasomy 18p

Annotation: Established in 1984, Families of Spinal Muscular Atrophy (FSMA) is a national organization that funds for research and promotes public awareness of Werdnig-Hoffmann disease, Kugelberg-Welander disease, and Aran-Duchenne adult progressive spinal muscular atrophy (SMA). Services include a referral system (in conjunction with the national SMA registry at Indiana University), a parent network, an equipment pool, and a resource library of print and audiovisual materials. Publications include a quarterly newsletter. The organization provides materials in Spanish and French. FSMA also sponsors conferences.

Keywords: Aran-Duchenne type (Adult progressive spinal muscular atrophy), Benign congenital hypotonia, Kugelberg-Welander disease, Neuromuscular diseases, Patient identification, Research, Education, Spinal muscular atrophy, Werdnig-Hoffmann disease

Annotation: The G.I. Polyposis and Hereditary Colon Cancer Registry is one of a national network of gastrointestinal polyposis and hereditary colon cancer registries. It includes physicians, a coordinator, and other paramedical professionals who work to find families with heritable conditions, provide genetic counseling or referrals, communicate with their physicians, and educate them on the physical and emotional problems that may result from a heritable diagnosis. Publications include a quarterly newsletter, Hereditary Colon Cancer.

Keywords: Colon cancer, Familial adenomatous polyposis, Gardner syndrome, Gastrointestinal polyposis, Genetic counseling, Juvenile polyposis, Patient education, Patient identification, Peutz-Jeghers syndrome

Annotation: The Helen Keller National Center for Deaf-Blind Youths and Adults (HKNC) provides services to youths and adults who are deaf-blind. HKNC's training program provides evaluation, short-term comprehensive vocational rehabilition training, and assistance to consumers in obtaining employment housing and community supports. The Center also conducts professional training seminars and provides professional internships. HKNC is a partner in the National Technical Assistance Consortium and the National Information Clearinghouse of Children who are Deaf-Blind, DB-LINK. HKNC support the National Family Association for Deaf-Blind and maintains a national registry of individuals who are deaf-blind and publishes a tri-annual newsletter, Nat-Cent News.

Keywords: Adolescents, Vocational rehabilitation, Training, , Blindness, Deafness, Hearing disorders, Patient identification

Annotation: The Johns Hopkins Hereditary Colorectal Cancer Registry provides genetic counseling, information for patients and professionals about cancer genetics and research, and referrals to community and hospital resources. The organization develops research studies and literature for use by public and private agencies and individual patients and their families.

Keywords: Colon cancer, Patient identification, Peutz-Jeghers syndrome

Annotation: The Hereditary Hemorrhagic Telangiectasia Foundation International (HHT), founded in 1991, fosters exchange of information on this rare genetic blood vessel disorder (also known as Osler-Weber-Rendu syndrome) among patients, physicians, researchers, genetic counselors, organizations, and the public. The foundation raises funds for genetic and clinical research, maintains a registry of affected families, provides individualized information, and supports scholarships, research grants, and annual conferences. Publications include a newsletter and several brochures. Materials are available in Spanish, French, Italian, Dutch, German, and other languages. Services to consumers include inquiry responses, referrals, publications, and reference information.

Keywords: Hereditary hemorrhagic telangiectasia, Cardiovascular diseases, Family support services, Fundraising, Genetic disorders, Hereditary diseases, Information services, Information services, Medical research, Patient identification