Search Results

71 - 80 of 1088
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
… implications of COVID19 in individuals with mitochondrial disease or their family members is unknown.  Individuals with mitochondrial disease may be particularly at risk for decline associated … like genetic differences in individuals with mitochondrial disease who may be infected with COVID-19.  Our goal is to …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… researchers know little about their roles in health and disease. Clinicians and researchers hope to use information about genomic variants to evaluate individual disease risk, make better diagnoses, develop more appropriate disease surveillance strategies, and provide better, tailored …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… and to dissect gene regulatory pathways in development and disease. His primary areas of interest include the … as well as the lysosomal storage disorder Niemann-Pick disease, Type C. By integration of basic science research … FD, Pavan WJ. A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage …
News Release
NIH is establishing the Multi-Omics for Health and Disease Consortium, with approximately $11 million awarded in the consortium’s first year of funding. The new consortium aims to advance the generation and analysis of “multi-omic” data for human health research.
… of Health is establishing the Multi-Omics for Health and Disease Consortium , with approximately $11 million awarded … and cellular processes involved in human health and disease, including untangling genetic and non-genetic factors … and promise to advance our understanding of disease onset and progression,” said Erin Ramos, Ph.D., M.P.H., …
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases. ​
… your medical care. … Information on just about any disease can be obtained from the published scientific … These articles present what is known to date about a disease. Such articles may focus on the cause, diagnosis, treatment or other aspects of a disease. Basic science or laboratory research: These articles …
News Release
NIH awarded grants to six medical centers to select from the most difficult-to-solve medical cases and develop effective approaches to diagnose them.
… 15 genes not previously associated with any other human disease. A combination of genomic and clinical analyses …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… on cancer, mental health, rare diseases, and many other disease areas. … Basic research exploring human and nonhuman … to help scientists understand the basic biology underlying disease, as well as to discover new possible therapeutic …  (traits). A typical study might be to model human disease in mice by deleting or editing certain genes that are …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… He elucidated the basic defects in cystinosis and Salla disease, i.e., deficiencies of the lysosomal membrane … alkaptonuria, autosomal recessive polycystic kidney disease, Chediak-Higashi disease, GNE myopathy, and … a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy . Nature Comm, 5:Article …
News Release
Dr. Gahl honored for his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases.
… involved uncovering the genetic basis of the rare disease Arterial Calcification due to Deficiency of CD73 (or … To date, they have discovered 23 new genetic disorders and disease phenotypes.  "The UDP has been an extraordinary …
News Release
Researchers at the National Human Genome Research Institute (NHGRI) have developed a new statistical model that can predict the risk for developing diseases by combining information about family member health and lifestyle factors from family members.
… The researchers used type 2 diabetes mellitus (T2D) as the disease model for their study. An estimated 30 million people … chronic diseases to treat. T2D is known as a complex disease because its development depends strongly on a … either over- or under-predict the patient’s risk for the disease. Such concerns are especially true for younger …