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 American Diabetes Association (ADA) promotes research on the prevention and cure of diabetes and works to improve the well-being of people with diabetes and their families. Publications include Clinical Diabetes, Diabetes, Diabetes Care, Diabetes Forecast, Diabetes Spectrum, andDiabetes Advisor. The association also publishes a catalog. Some materials are available in Spanish. ADA also sponsors conferences and workshops.

Keywords: Diabetes, Insulin, Metabolic diseases, Spanish language materials

Annotation: The American Porphyria Foundation promotes awareness and treatment of the porphyrias, a group of at least eight types of rare and complex metabolic disorders. The organization serves patients and physicians as an information source and exchange and provides individuals with the opportunity to participate in research, support groups, conferences, political action, seminars, and fund raising projects. The Foundation also offers referrals and publications for consumers, and a list serv is open to anyone. Publications include Acute Intermittent Porphyria (AIP): A Description for Patients and Their Relatives, Diet and Nutrition in Porphyria, Hematin, Questions Commonly Asked About Porphyria, Erythropoietic Protoporphyria, Porphyria Cutanea Tarda, and a quarterly newsletter.

Keywords: Metabolic diseases, Diet, Nutrition, Porphyrias

Annotation: The Association for Glycogen Storage Disease (AGSD) protects and promotes the interests of people affected by glycogen storage disease, disseminates information, provides parental support and referral services, sponsors an annual conference, and facilitates communication among professionals in related fields. Publications include a quarterly newsletter, The Ray, and a parent handbook.

Keywords: Glycogen storage disease, Health promotion, Information dissemination, Information services, Metabolic diseases, Parent support services

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

Annotation: Founded in 1991, the Children's PKU Network (CPN) is a national nonprofit organization that addresses the special needs and concerns of people with phenylketonuria (PKU) and related metabolic disorders. The organization provides networking services, referrals, references information and resources, a hotline (during business hours), and support for people living with PKU and other rare inherited metabolic diseases. Publications include a newsletter and some materials are available in Spanish.

Keywords: Metabolic diseases, Phenylketonuria

Annotation: The Cystinosis Foundation serves as a support group for parents of children with cystinosis, educates the general public and the medical community, and raises funds for research. Publications include a pamphlet, Facts About Cystinosis, and a quarterly newsletter.

Keywords: Cystinosis, Children, Fundraising, Metabolic diseases, Parent groups, Support groups

Annotation: The Cystinosis Research Network is a volunteer, non-profit organization dedicated to supporting and advocating research, providing family assistance and educating the public and medical communities about cystinosis. The network offers news, information about cystinosis and about research, links to additional resources, and two e-mail discussions lists, one for parents and one for adolescents, and an e-mail newsletter.

Keywords: Children, Cystinosis, Fundraising, Metabolic diseases, Parent groups, Support groups

Annotation: The Fatty Oxidation Disorders Family Support Group provides emotional support and practical information to Families living with a Fatty Oxidation Disorder (FOD), such as MCAD, LCHAD, MADD/GA2, SCAD, and VLCAD. The network also informs families of new developments in research and treatment and provides referrals,publications, and an Email List for families and interested professionals. The FOD Communication Network newsletter is published semi-annually and also posted on the organization's Web site.

Keywords: Fatty oxidation disorder, Medium-chain acyl CoA dehydrogenase (MCAD), Metabolic diseases, Parent groups

Annotation: The Human Biological Data Interchange (HBDI) is a collaborative project of the National Disease Research Interchange, the Juvenile Diabetes Foundation International, and the Coriell Institute for Medical Research. It offers a new resource to facilitate research on the etiology and pathogenesis of disease with a computerized medical history database of special case families to assist researchers studying aspects of specific diseases. The initial category is insulin-dependent diabetes mellitus; the first population under study is the membership of the Juvenile Diabetes Foundation International.

Keywords: Diabetes, Diabetes mellitus, Medical research, Metabolic diseases

Annotation: The Inherited Metabolic Disease Clinic (IMD Clinic) at the Children's Hospital in the Denver, Colorado area is a treatment center for children with inherited metabolic diseases in the Rocky Mountain states. The clinic conducts research on these diseases and educates health care trainees and professionals.

Keywords: Children, Medical research, Education, Metabolic diseases, Phenylketonuria

Annotation: The International Center for Fabry Disease at the Mount Sinai School of Medicine in New York is a clinical and research center providing diagnosis and treatment. Patients can contact the Center for more information about the disease and can visit the center for medical evaluations. Services to consumers include referrals, publications, and reference information. There is also the opportunity to participate in research studies, particularly studies of enzyme replacement therapy.

Keywords: Fabrys disease, Metabolic diseases

Annotation: The International Diabetes Center provides education, clinical research, patient care, referrals, publications, and dissemination of information, technology, and service delivery programs for people with diabetes, their families, and concerned health professionals. The center sponsors conferences and training seminars and publishes a catalog and a newsletter. Some materials are available in Spanish. The center is a division of the Institute for Research and Education, Health System Minnesota and is designated a World Health Organization Collaborating Center for Diabetes Education Translation and Computer Technology.

Keywords: Diabetes, Health education, Information dissemination, Medical research, Metabolic diseases, Patient care

Annotation: The International Organization for Glutaric Aciduria, Type 1 provides services to consumers that include referrals, publications, and reference information. Some materials are available in German. The organization also publishes a newsletter (Spring/Winter).

Keywords: Glutaric Aciduria, Metabolic diseases

Annotation: Iron Overload Diseases Association (IOD) promotes research, provides referrals, conducts education programs for the medical profession and the public, sponsors annual symposia, acts as a clearinghouse for doctors and patients, sponsors screening programs, publicizes the problem of iron overload diseases through the media, maintains a computerized information center, and raises funds. Publications include Overload: An Ironic Disease, Iron Overload Alert, the bimonthly newsletter Ironic Blood, audiovisual materials, and a fact sheet.

Keywords: Hemochromatosis, Fundraising, Hematologic diseases, Iron overload diseases, Medical education, Medical research, Metabolic diseases, Self help clearinghouses

Annotation: The Juvenile Diabetes Research Foundation International (JDRF) supports research on the causes, cure, treatment, and prevention of type 1 diabetes and its complications. Publications include Countdown magazine, research and life with diabetes e-newsletters, and educational pamphlets. JDRF has local chapters throughout the country.

Keywords: Diabetes, Diabetes mellitus, Information services, Insulin, Medical research, Metabolic diseases

Annotation: The Lowe Syndrome Association (LSA) promotes understanding of Lowe syndrome and the potential of people with the syndrome, provides referrals, fosters communication among families, disseminates information, and encourages and supports medical research. Publications include Lowe Syndrome Association (pamphlet); Living with Lowe Syndrome (booklet); a newsletter produced three times a year, On the Beam; and an annual Parent Directory. The association sponsors conferences every two years.

Keywords: Lowe syndrome, Medical research, Metabolic diseases, Support groups

Annotation: The Mucolipidosis IV Foundation was established by concerned parents of children with mucolipidosis IV to increase public awareness of the disease and to raise funds for research. The foundation supports research on treatment and cure, improved diagnostic measures, and development of a carrier screening test for mucolipidosis IV.

Keywords: Medical research, Metabolic diseases, Mucolipidosis, Parent groups

Annotation: The National Diabetes Information Clearinghouse (NDIC) is an information and referral service of the National Institute of Diabetes and Digestive and Kidney Diseases, one of the National Institutes of Health. The clearinghouse responds to written inquiries, develops and distributes publications about diabetes, and provides referrals to diabetes organizations. The NDIC maintains a database of patient and professional educational materials from which literature searches are generated. The clearinghouse will provide bulk orders of publications to health and information professionals planning patient health education programs at a minimal cost. Some publications are available in Spanish. The organization also sponsors an email newsletter Diabetes Dateline.

Keywords: Diabetes, Digestive system diseases, Kidney diseases, Metabolic diseases, Self help clearinghouses

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