Search Results: MCH Organizations

Annotation: The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) supports a wide range of medical research through grants to universities and other medical research institutions across the country. The Institute also supports government scientists who conduct basic, translational and clinical research across a broad spectrum of research topics and serious, chronic diseases and conditions related to the institute's mission. In addition, the NIDDK supports research training for students and scientists at various stages of their careers and a range of education and outreach programs to bring science-based information to patients and their families, health care professionals and the public.

Keywords: Cystic fibrosis, Diabetes, Digestive system diseases, Endocrine disorders, Information dissemination, Kidney diseases, Medical research, Medical research, Metabolic diseases

Annotation: The National MPS Society, Inc., previously known as the National Mucopolysaccharidosis Society, serves parents of affected children through support, networking, physician referrals, professional and public education, and fundraising for research into mucopolysaccharidosis (MPS) disorders. Services to consumers include referrals, publications, and reference information. Publications include What Is MPS? , a newsletter, Courage, and booklets on MPS disorders. Some materials are available in Spanish.

Keywords: Health education, Lipochondrodystrophy, Maroteaux-Lamy syndrome, Metabolic diseases, Mucolipidosis, Mucopolysaccharidosis, Parent groups, Sanfilippo syndrome, Scheie syndrome, Support groups

Annotation: The National Organization for Albinism and Hypopigmentation (NOAH) provides information and support for people with albinism and their families. The organization promotes public and professional education about albinism, supports research on the diagnosis and management of this condition, and sponsors a conference every two years. Services to consumers include inquiry responses and reference information. Publications include the biannual NOAH News , and information bulletins and handouts on topics related to albinism. Some materials are available in Spanish.

Keywords: Albinism, Health promotion, Hypopigmentation, Medical research, Metabolic diseases, Support groups

Annotation: National PKU News provides referrals, reference information, and publications for consumers, including a newsletter.

Keywords: Metabolic diseases, Phenylketonuria

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

Annotation: The North American Malignant Hyperthermia Registry provides physicians with summaries of consenting, registered patients' anesthesia histories.

Keywords: Malignant Hyperthermia, Metabolic diseases

Annotation: The Organic Acidemia Association (OAA) encourages communication and support among families and professionals dealing with organic acidemias and related rare metabolic disorders. Services to consumers include parent to parent networking and an internet listserv. Some materials are available in Spanish. The association publishes a newsletter three times a year and sponsors family conferences.

Keywords: Argininosuccinic acidemia, Carbamyl phosphate synthetase deficiency, Citrullenemia, Ethylmalonic adipic acidemia, Homocystinuria, Metabolic diseases, Methylmalonic acidemia, Organic acidemia, OTC deficiency, Propionic acidemia, Rare diseases, Support groups

Annotation: The Oxalosis and Hyperoxaluria Foundation (OHF) provides support and information on current treatments for affected people and their families. The foundation disseminates information to physicians on standardized treatment plans, supports research through patient tracking and fundraising efforts, maintains a parent network, and publishes a newsletter. The foundation also sponsors conferences and training seminars for medical professionals only.

Keywords: Fundraising, Hyperoxaluria, Information dissemination, Metabolic diseases, Oxalosis, Support groups

Annotation: The Propionic Acidemia Foundation is dedicated to improved treatment and a cure for PA by funding research and providing a primary resource of information, education and support to families and medical professionals. The organization offers inquiry responses, publications, and an online discussion forum.

Keywords: Metabolic diseases

Annotation: The Purine Research Society is a public, nonprofit organization that supports laboratory research on purine enzyme errors. Children with an error in one or more purine enzymes may have severe learning disabilities, hearing impairments, seizures, and/or low muscle tone. The society's services to consumers include publications and reference information, as well as a purine-restricted diet for patients with high uric acid or gout.

Keywords: Metabolic diseases, Purine 24

Annotation: The United Leukodystrophy Foundation (ULF) works to increase public awareness of the leukodystrophies. The foundation supports research and provides information, resource referrals, publications, and a communication network for affected families. Publications include Facts About Leukodystrophy, reprints on disease-specific subjects, a quarterly newsletter, and a catalog. Some materials are available in Spanish, Portuguese, and other languages. The Foundation holds an annual conference and is supported by donations.

Keywords: Adrenoleukodystrophy, Alexander's disease, Canavan's disease, Cerebrotendinous xanthomatosis, Globoid leukodystrophy (Krabbe disease), Metabolic diseases, Metachromatic leukodystrophy, Pelizaeus-Merzbacher disease, Refsum disease, Zellweger syndrome

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

Annotation: The Williams Syndrome Association (WSA) locates individuals with Williams Syndrome (WS) and their families and offers support with the most up to date information on WS and referral to professionals most familiar with WS in their area and other WS families nearby. The association provides information to affected families and concerned professionals, maintains print and audiovisual libraries with over 1,000 titles on WS and related topics, and sponsors a national convention every two years. Publications include a newsletter (three times a year), a facts brochure (in English and Spanish), a storybook about WS for children, publications on education testing and strategies, and parent and professional information packets. WSA sponsors conferences and provides materials in Spanish and Asian languages.

Keywords: Aortic stenosis, Developmental disabilities, Elfin facies, Hypercalcaemia, Information services, Metabolic diseases, Parent groups, Support groups, Williams syndrome

Annotation: The Wilson's Disease Association assists people with Wilson's disease and their families by providing medical referrals, limited financial aid, and a communication network for mutual support. The association provides referrals, responses to inquiries, and reference information on the disease to patients, affected families, health care professionals, and the public. Subscription to a list service is open to the public though the organization's web site. Publications include a quarterly newsletter. The organization has an annual meeting held in the Spring and has various support groups throughout the US during the year.

Keywords: Financial support, Information services, Listservs, Menkes disease, Metabolic diseases, Support groups, Wilsons disease