Search Results
Event
NHGRI, National Institute of Environmental Health Sciences (NIEHS) and National Cancer Institute (NCI) will host a pre-application interactive webinar for the Multi-Omics for Health and Disease program funding opportunity announcements (FOAs): RFA-HG-22-008,
RFA-HG-22-009 and RFA-HG-22-010.
… interactive webinar for the Multi-Omics for Health and Disease program funding opportunity announcements (FOAs). NIH … process: RFA-HG-22-008 : Multi-Omics for Health and Disease — Disease Study Sites (U01 Clinical Trial Not Allowed) …
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 … the forefront of research innovation by using high-risk screens to identify major modifiers of primary genetic …
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 … view of the factors that contribute to disease risk and outcomes. Beyond gaining insights into individual …
News Release
Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.
… have now identified the cause of the illness, a new disease called CRIA syndrome. The results were published in … has characteristics typical of an autoinflammatory disease, where the immune system appears to be activated … relationship, Kastner’s team named the resulting disease cleavage-resistant RIPK1-induced autoinflammatory …
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 … begin evaluating the safety of potential treatments. The risk of off-target edits, or unintended edits, and their …
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 researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.
… a key factor in understanding the elevated cancer risk associated with gene therapy. They conducted research on mice with a rare disease similar to one in humans, hoping their findings may … AAVs are small viruses that infect humans but do not cause disease. A vector is a DNA molecule of AAV used as a vehicle …
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 …
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 Hermansky-Pudlak syndrome (HPS), a …
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… or families who have genetic disorders or may be at risk for inherited conditions. … Genetics professionals are … For example, they may specialize in a particular disease (such as cancer genetics), an age group (such as … doctor or medical researcher - who specializes in your disease or disorder. A medical geneticist has completed a …