Resource Central: Resources on Rare Diseases

▸ CENTERWATCH (centerwatch.com ) provides patients and their advocates with information on clinical trials, specific drugs, and other essential health and educational resources.

Figure. Courtesy The Pinkelman Family

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▸ CLINICALTRIALS.GOV is a registry of federally and privately supported clinical trials conducted in the United States and around the world. ClinicalTrials.gov provides information about various trials including eligibility, locations, and phone numbers where people can get more information.

▸ THE COLLABORATION EDUCATION AND TEST TRANSLATION (CETT) PROGRAM (cettprogram.org ) helps facilitate the translation of new tests for rare genetic diseases using the latest knowledge and research.

▸ GENETICS HOME REFERENCE (ghr.nlm.nih.gov ) provides consumer-friendly information about more than 700 genetic health conditions, diseases, and syndromes.

▸ HOPE FOR HYPOTHALAMIC HAMARTOMAS (hopeforhh.org ) is a volunteer-based nonprofit organization founded by parents of children with a rare brain tumor called hypothalamic hamartomas (HH). The goal of Hope for HH is to provide information and support to patients, caregivers, and health care providers and to promote research for early detection, improved treatments, and finding a cure.

▸ THE NATIONAL INSTITUTES OF HEALTH UNDIAGNOSED DISEASES PROGRAM (rarediseases.info.nih.gov/Resources.aspx?PageID=31 ) helps provide answers to patients with conditions that have long eluded diagnosis and strives to advance medical knowledge about both rare and common diseases.

▸ NATIONAL NEWBORN SCREENING AND GENETICS RESOURCE CENTER (genes-r-us.uthscsa.edu ) provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers, and government officials.

▸ THE NATIONAL ORGANIZATION FOR RARE DISORDERS (rarediseases.org ) provides reports in patient-friendly language on more than 1,200 rare diseases, including links to resources for additional information and assistance.

▸ SAVE BABIES THROUGH SCREENING FOUNDATION (savebabies.org ) advocates for disorders that are detectable through newborn screening; are unlikely to be clinically diagnosed without screening; and cause mental retardation, physical disability, and/or death in childhood when left untreated.

▸ TRIALS CENTRAL (trialscentral.org ) allows visitors to search for clinical trials by diseases and drugs.