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News Release
Dr. Gahl honored for his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases.
… his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases. … The Department of Health and … possible treatments for people suffering from unknown and rare genetic conditions. Bill Gahl, M.D, Ph.D., Senior … in 2011. To date, they have discovered 23 new genetic disorders and disease phenotypes. "The UDP has been an …
Media Availability
TCGA researchers have found that chromophobe renal cell carcinoma stems partly from gene alterations in the mitochondria, the cell's energy supplier.
… of new findings about the biology and development of a rare form of kidney cancer. … They found that the disease - … of 50 of the 66 ChRCC tumors studied, a high number for a rare cancer. The study revealed increased numbers of … the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its …
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… cellular processes like autophagy,” said Malicdan. A rare disease that involves changes in one gene can help tease … of autophagy are involved in common neurological disorders, such as Alzheimer’s disease. Knowledge of this rare neurological disorder could lead to new avenues of …
News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
… with one of about 7,000 Mendelian diseases, which are disorders generally thought to be caused by mutations in a … goal is to significantly increase the number of Mendelian disorders for which the genetic cause is known. To achieve … funds new effort to discover genetic causes of single-gene disorders … NIH will award nearly $80 million to support the …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research (ORDR) (now the National Center for Advancing Translational Sciences Division of Rare Diseases Research Innovation) and the NIH Clinical … encountered patients with uncommon presentations of known disorders, multi-systemic complex disorders and new disorders …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… Branch (MGB) seeks to identify and understand inherited disorders of metabolism and of human development. MGB … test new diagnostic tests and treatments for patients with rare genetic disorders in the NIH Clinical Center. To achieve … NIH, and worldwide. The Branch attracts patients with rare disorders and engages in collaborations that have led to …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… Network Facts About Down Syndrome Genetics and Rare Diseases Information Center Finding Reliable Health … chromosomal condition related to chromosome 21. … Genetic Disorders …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… Dr. Gahl's research has focused on the natural history of rare metabolic disorders and the discovery of new genetic diseases. He … in the Human Biochemical Genetics Section have studied rare disorders and discovered new diseases, employing the …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… Institutes of Health researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - … the United Kingdom. The just-discovered otulipenia is a rare and sometimes lethal inflammatory disease that causes … in this protein has not been previously linked to clinical disorders of the human immune system," said Ivona …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… for demystifying undiagnosed illnesses - particularly rare childhood diseases - is moving from research … disease, mental disability, other neuropathies, metabolic disorders, epilepsy, cardiomyopathy, cancer and amyotrophic … for whom the technology is most promising are those with rare disorders that seem to be the result of variants in a …