U.S. Department of Health and Human Services



NIH Office of Rare Diseases Research

The Office of Rare Diseases Research (ORDR) was established in 1993 within the Office of the Director of the National Institutes of Health (NIH), the Federal focal point for biomedical research. ORDR coordinates and supports rare diseases research, responds to research opportunities for rare diseases, and provides information on rare diseases. Public Law 107-280, the Rare Diseases Act of 2002, established the ORDR by statute. The goals of ORDR are to stimulate and coordinate research on rare diseases and to support research to respond to the needs of patients who have any one of the more than 7,000 rare diseases known today.

Review Date: August 04, 2011

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Office of Public Health Genomics, Centers for Disease Control and Prevention

The Office of Public Health Genomics (OPHG) aims to integrate genomics into public health research, policy, and programs, which could improve interventions designed to prevent and control the country’s leading chronic, infectious, environmental, and occupational diseases.

Review Date: August 01, 2011

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Bioethics Research Library, Georgetown University

The Bioethics Research Library at Georgetown University (BRL) is a specialized, non-circulating collection of over 300,000 books, legal publications, regulations, codes, government documents, and other relevant materials related to biomedical and professional ethics written in over 20 languages. This collection functions both as a reference library for the public and as a research resource for scholars world-wide. The library’s databases on bioethics literature, organizations, and syllabi are accessible on the library web site and contain many links to full-text materials. Other sources of full-text documents on this site include the digital archives of U.S. Bioethics Commissions, and historical documents on genetics and ethics.

Review Date: August 16, 2012

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Birth Defect Research for Children, Inc.

Birth Defect Research for Children, Inc. (BDRC) is a 501(c)(3) non-profit organization that provides parents and expectant parents with information about birth defects and support services for their children. BDRC has a parent-matching program that links families who have children with similar birth defects. BDRC also sponsors the National Birth Defect Registry, a research project that studies associations between birth defects and exposures to radiation, medication, alcohol, smoking, chemicals, pesticides, lead, mercury, dioxin and other environmental toxins. Each year, BDRC responds to thousands of birth defect information requests from all over the world. BDRC's on-line environmental health updates provide thousands of parents, professionals and organizations with daily news on the latest birth defect research.

Review Date: September 17, 2015

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Hereditary Disease Foundation

The Hereditary Disease Foundation (HDF) aims to cure genetic illness by supporting basic biomedical research. The Foundation uses a variety of strategies – workshops, grants, fellowships, and targeted research contracts – to solve the mysteries of genetic disease and develop new treatments and cures. HDF has spent over $60,000,000 to support pioneering research in genetics, gene therapy, molecular and cell biology, cell survival and death, animal models, neurophysiology, neuropharmacology and other areas relevant to the understanding of inherited diseases. HDF is a 501(c)(3) nonprofit organization.

Review Date: October 31, 2011

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National Birth Defects Center

Established in 1984, the Center provides diagnosis and treatment to children born with Birth Defects, Genetic Diseases and Mental Retardation. The Center consists of physicians and consultants in pediatrics, genetics, orthopedics, cardiology, neurology, ophthalmology, endocrinology, craniofacial surgery, plastic surgery, and other specialties. The Center houses the Pregnancy Environmental Hotline, a toll-free service which provides information concerning the effects that drugs, medications, radiation, infections, or environmental agents may have on the fetus.

Review Date: August 27, 2008

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National Foundation for Ectodermal Dysplasias

The National Foundation for Ectodermal Dysplasias, (NFED), was organized in order that accurate information on ectodermal dysplasias (ED) would be available to patients and their families dealing with this rare disorder. The Foundation's goals are to locate parents of ED children or adults affected by ED and to provide them with information and support, to assist the medical community in treating ED patients, to distribute financial assistance for medical and dental care and scholarships when possible, to aid families with the acquisition of insurance benefits, to provide referral services, and to assist with research projects. NFED is funded by donations.

Review Date: August 26, 2008

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National MPS Society

The National MPS Society exists to find cures for MPS and related diseases. We provide hope and support for affected individuals and their families through research, advocacy and awareness of these devastating diseases.

Review Date: July 29, 2015

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National Society of Genetic Counselors

The National Society of Genetic Counselors (NSGC) promotes the professional interests of genetic counselors and provides a network for professional communications. Local and national continuing education opportunities and the discussion of all issues relevant to human genetics and the genetic counseling profession are an integral part of belonging to the NSGC. Growth and development within the profession and the recognition of a unique identity provided the impetus for the formation of a responsive professional society. To that end, the National Society of Genetic Counselors was incorporated in 1979. The National Society of Genetic Counselors advances the various roles of genetic counselors in health care by fostering education, research, and public policy to ensure the availability of quality genetic services.

Review Date: January 27, 2012

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Neurofibromatosis, Inc.

Neurofibromatosis, Inc., is a nonprofit organization that provides individuals and families affected by neurofibromatosis (NF) and related disorders with information on the disorder, referrals to physicians and other service providers, and peer counseling. A 24-hour message line is available, with service is extended through the weekend with the help of volunteer staff. NF, Inc. maintains a database of resources on the care of the condition; sponsors seminars and workshops; and provides books, pamphlets, posters, and other related materials. The Chris Hollis campership Fund awards scholarships to young people with NF to attend a summer camp. NF, Inc. also promotes and supports research in neurofibromatosis and related conditions. The organization names an NF, Inc. Scholar each year to assist in educating the professional community about NF.

Review Date: April 29, 2011

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Osteogenesis Imperfecta Foundation, Inc.

The Osteogenesis Imperfecta Foundation is a voluntary national health organization dedicated to improving the quality of life for individuals affected by OI through education, awareness, mutual support and research into improved treatments and an eventual cure. Resources and programs include a quarterly newsletter, a physician information service, written literature, informative videos, a pen pal program for children, national conferences, and local support groups. Research grants are awarded each year. Osteogenesis imperfecta is a highly variable, inherited disorder whose main feature is fragile bones, which fracture easily. Other symptoms may include blue sclerae, hearing loss, loose joints, lax ligaments and short stature. Many individuals with OI have only some- not all - of the clinical features.

Review Date: July 29, 2015

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Stickler Involved People

Stickler Involved People (SIP) is a national network whose purpose is to increase awareness of Stickler syndrome by educating medical professionals, educators, and people with Stickler syndrome and their families. Because Stickler syndrome manifests itself differently in each person, it is very difficult to diagnose. The Network's education material includes information on the variety, and severity of symptoms associated with Stickler Syndrome, and a diagnostic aid for physicians, specifically neonatologists and pediatric geneticists and rheumotologists. Two videos about Stickler syndrome are available on the SIP web site. SIP responds to inquiries by mail, telephone, and electronic mail. SIP sponsors an annual conference, and maintains a listserv to promote one-on-one contacts.

Review Date: August 21, 2012

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Support Organization for Trisomy 18, 13 and Related Disorders

Support Organization for Trisomy 18, 13 and Related Disorders (SOFT) is a network of families and professionals dedicated to providing support and understanding to families involved in the issues and decisions surrounding the diagnosis and care in trisomy 18, 13, and related chromosomal disorders. Support is provided during prenatal diagnosis, the child's life and after the child's passing. SOFT is committed to respect a family's personal decision in alliance with a parent-professional partnership. Annual Conference with free medical clinics.

Review Date: July 21, 2010

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The Myelin Project

The Myelin Project is a non-profit organization, the goal of which is to accelerate research on the remyelination of the central nervous system. Successful research in this area will help those suffering from insufficient myelin and demyelinating disorders; i.e. Multiple Sclerosis, Guillain-Barre Syndrome and the leukodystrophies. The leukodystrophies are a group of genetically transmitted diseases in which abnormal metabolism of myelin constituents leads to progressive demyelination. The Project can provide literature relating to the above named diseases, and describing their research efforts, and its progress. The organization will also conduct literature searches relating to myelin diseases upon request. Some material are available in Italian, French and German. All services are extended to patients, professionals, and the general public. The organization will respond to inquiries made either by mail, telephone or electronic mail.

Review Date: April 29, 2011

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Tuberous Sclerosis Alliance

The Tuberous Sclerosis Alliance (TSA), formerly the National Tuberous Sclerosis Association (NTSA), was established in 1974 to provide fellowship, generate awareness, pursue more knowledge and provide hope to those that shared the common bond of tuberous sclerosis. The Association's goals include identification of persons with this disorder; identification of knowledgable individuals in the helping professions; education of patients' families, professionals, and the public; promotion of research; development of a national medical registry; and communication among families of tuberous sclerosis patients. NTSA has established a network of area representatives providing group meetings and telephone contact between families.

Review Date: April 06, 2011

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University Healthcare Hospitals and Clinics

University Healthcare and the University of Utah offer numerous patient education resources in both English and Spanish to patients and their families.

Review Date: October 14, 2011

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Xeroderma Pigmentosum Society

The Xeroderma Pigmentosum Society was founded to raise awareness about XP, a life-threatening, sun-sensitive, genetic disorder; to provide support to patients and their families through information, protection and services; and to promote research for a cure. XPS also offers a unique, international summer camp for families conducted in a UV-safe environment.

Review Date: September 09, 2010

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