The National Institutes of Health, commonly referred to as NIH, is the primary agency of the United States government responsible for biomedical and public health research. It was founded in the late 1880s and is now part of the United States Department of Health and Human Services. Many NIH facilities are located in Bethesda, Maryland, and other nearby suburbs of the Washington metropolitan area, with other primary facilities in the Research Triangle Park in North Carolina and smaller satellite facilities located around the United States. The NIH conducts its own scientific research through the NIH Intramural Research Program (IRP) and provides major biomedical research funding to non-NIH research facilities through its Extramural Research Program.
A rare disease is a disease that affects a small percentage of the population. In some parts of the world, the term orphan disease describes a rare disease whose rarity results in little or no funding or research for treatments, without financial incentives from governments or other agencies. Orphan drugs are medications targeting orphan diseases.
The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) is one of the institutes and centers that make up the National Institutes of Health, an agency of the United States Department of Health and Human Services (HHS).
The National Heart, Lung, and Blood Institute (NHLBI) is the third largest Institute of the National Institutes of Health, located in Bethesda, Maryland, United States. It is tasked with allocating about $3.6 billion in FY 2020 in tax revenue to advancing the understanding of the following issues: development and progression of disease, diagnosis of disease, treatment of disease, disease prevention, reduction of health care disparities within the American population, and advancing the effectiveness of the US medical system. NHLBI's Director is Gary H. Gibbons (2012–present).
The National Cancer Institute (NCI) coordinates the United States National Cancer Program and is part of the National Institutes of Health (NIH), which is one of eleven agencies that are part of the U.S. Department of Health and Human Services. The NCI conducts and supports research, training, health information dissemination, and other activities related to the causes, prevention, diagnosis, and treatment of cancer; the supportive care of cancer patients and their families; and cancer survivorship.
Heřmanský–Pudlák syndrome is an extremely rare autosomal recessive disorder which results in oculocutaneous albinism, bleeding problems due to a platelet abnormality, and storage of an abnormal fat-protein compound. It is thought to affect around 1 in 500,000 people worldwide, with a significantly higher occurrence in Puerto Ricans, with a prevalence of 1 in 1800. Many of the clinical research studies on the disease have been conducted in Puerto Rico.
The National Center for Research Resources (NCRR) was a center within the National Institutes of Health, a United States government agency. NCRR provided funding to laboratory scientists and researchers for facilities and tools in the goal of curing and treating diseases.
Eva Lucille Feldman is an American physician-scientist who is a leading authority on neurodegenerative disease. She serves as the Russell N. DeJong Professor of Neurology at the University of Michigan, as well as Director of the NeuroNetwork for Emerging Therapies and ALS Center of Excellence at Michigan Medicine. She was also named the James W. Albers Distinguished University Professor of Neurology.
Orphanet is an organisation and knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert networks.
The Center for Cerebrovascular Research at the University of California, San Francisco is a collective of faculty and staff investigating matters related to cerebral circulation, particularly cerebrovascular disease resulting from narrowing of major blood vessels in the brain and vascular malformation of the brain. While research offices are located on Parnassus campus, San Francisco General Hospital hosts the center's laboratories and facilities. The center coordinates with additional faculty in various fields of neuroscience and vascular biology. Sponsors include the National Institute of Neurological Disorders and Stroke and the UCSF departments of Anesthesia, Neurological Surgery and Neurology.
The International Fibrodysplasia Ossificans Progressiva Association (IFOPA) is a US-based 501(c)(3) non-profit organization supporting medical research, education and communication for those afflicted by the rare genetic condition Fibrodysplasia Ossificans Progressiva (FOP). IFOPA's mission is to fund research to find a cure for FOP while supporting, connecting, and advocating for individuals with FOP and their families, and raising awareness worldwide. IFOPA is governed by a volunteer board of directors which may range in number from 9 to 15, at least one of whom must have FOP. The association's location is 1520 Clay St., Suite H2, North Kansas City, MO, 64116, part of the Kansas City, Missouri metropolitan area.
The National Center for Advancing Translational Sciences (NCATS) was established on December 23, 2011 and is located in Bethesda, Maryland. NCATS is one of 27 institutes and centers of the U.S. National Institutes of Health (NIH), an agency of the U.S. Department of Health and Human Services. The mission of NCATS is to transform scientific discoveries into new treatments and cures for disease that can be delivered faster to patients. The budget provided to NCATS for fiscal year 2018 is $557,373,000.
The NIH Clinical Center is a hospital solely dedicated to clinical research at the National Institutes of Health campus in Bethesda, Maryland. The Clinical Center, known as Building 10, consists of the original part of the hospital, the Warren Grant Magnuson Clinical Center, and the newest addition, the Mark O. Hatfield Clinical Research Center. The two parts are connected to form one large building.
The NIH Intramural Research Program (IRP) is the internal research program of the National Institutes of Health (NIH), known for its synergistic approach to biomedical science. With 1,200 Principal Investigators and over 4,000 Postdoctoral Fellows conducting basic, translational, and clinical research, the NIH Intramural Research Program is the largest biomedical research institution on earth. The unique funding environment of the IRP facilitates opportunities to conduct both long-term and high-impact science that would otherwise be difficult to undertake. With rigorous external reviews ensuring that only the most outstanding research secures funding, the IRP is responsible for many scientific accomplishments, including the discovery of fluoride to prevent tooth decay, the use of lithium to manage bipolar disorder, and the creation of vaccines against hepatitis, Hemophilus influenzae (Hib), and human papillomavirus (HPV). In addition, the IRP has also produced or trained 21 Nobel Prize-winning scientists.
The Rare Diseases Clinical Research Network (RDCRN) Contact Registry is a patient contact registry started in 2004 and sponsored by the National Institutes of Health (NIH). The RDCRN Contact Registry collects and stores the contact information of people who want to participate in RDCRN-sponsored research or learn more about RDCRN research. It connects patients with researchers in order to advance rare disease research.
The Rare Disease Act of 2002 is a law passed in the United States that establishes the statutory authorization for the Office of Rare Diseases as a federal entity able to recommend a national research agenda, coordinate research, and provide educational activities for researchers.
The Undiagnosed Diseases Network (UDN) is a research study that is funded by the National Institutes of Health Common Fund. Its purpose is to bring together clinical and research experts from across the United States to solve the most challenging medical mysteries using advanced technologies.
The Office of Rare Diseases Research is a division of the US National Center for Advancing Translational Sciences (NCATS) that oversees the Rare Diseases Clinical Research Network and Genetic and Rare Diseases Information Center.
Niki M. Moutsopoulos is a Greek periodontist and immunologist. She is a senior investigator in the oral immunity and infection section at the National Institute of Dental and Craniofacial Research. Moutsopoulos specializes in oral immunology and periodontitis. Her research program focuses on host-microbial interactions that can drive chronic inflammatory responses and tissue destruction in the oral cavity.
Erika F. Augustine is an Associate Chief Science Officer and Director of the Clinical Trials Unit at Kennedy Krieger Institute. She was previously an Associate Professor of Neurology and Pediatrics at the University of Rochester Medical Center in Rochester, New York. Augustine co-directed the University of Rochester Batten Center, and was the associate director of both the Center for Health and Technology and the Udall Center of Excellence in Parkinson's Disease Research. Augustine's clinical research and medical practice specialize in pediatric movement disorders. She leads clinical trials for Batten diseases, a group of rare pediatric neurodegenerative disorders, and she has developed a novel telemedicine model to increase the efficacy of remote care for patients with rare diseases.
