Search Results
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.
… M.D., Ph.D., a pioneer in the field of autoinflammatory diseases, and his team discovered CRIA, which has symptoms … unexplained fever, swollen glands and other symptoms or diseases, and then at over a quarter million people from … are routinely used to treat autoinflammatory and chronic diseases such as rheumatoid arthritis, had little effect on …
News Release
Genomic variants that increase risk of kidney disease are found in nearly one-third of West Africans
A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people of West African ancestry.
… National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and co-author of the study. “Overall, we …
Staff
Dr. Shawn Burgess is the co-deputy director of NHGRI's Intramural Research Program.
… only genes suspected to be linked to human genetic diseases will be knocked out, in collaboration with the Undiagnosed Diseases Network. All the known genes linked to … for these mutants, in addition to working closely with the Undiagnosed Diseases Network to knock out genes that are …
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.
… drug targets. “Beyond gaining insights into individual diseases, the primary goal of this consortium is to develop … sites, which will examine conditions such as fatty liver diseases, hepatocellular carcinoma, asthma, chronic kidney … risk and outcomes. Beyond gaining insights into individual diseases, the primary goal of this consortium is to develop …
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
… accurate and reliable information on genetic and rare diseases among the millions of online sources is a difficult … Human Genome Research Institute or the Office of Rare Diseases at the National Institutes of Health. We cannot … offers high-quality information on more than 600 diseases and conditions. MEDLINEplus describes itself as "a …
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… in a gene called UBA1 are associated with inflammatory diseases … some form of a chronic inflammatory disease. Many of these diseases have overlapping symptoms, which often make it … the genome sequences from more than 2,500 individuals with undiagnosed inflammatory diseases, paying particular …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… being applied to research on cancer, mental health, rare diseases, and many other disease areas. … "disease models," or laboratory animals that mimic human diseases and can be studied to test new therapies. In the … to use genome editing as a treatment for disease. Many diseases from cancer to asthma have genetic bases. Through …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… to apply these standards in the context of particular diseases. ClinGen projects center on developing processes and …
News Release
Researchers build a statistical model using family health history to improve disease risk assessment
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.
… statistical model that can predict the risk for developing diseases by combining information from family members about … making it one of the most common and costly chronic diseases to treat. T2D is known as a complex disease because … relying on models that can only be used for complex diseases such as hypertension, high cholesterol and heart …
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… provide an estimate of an individual’s risk for specific diseases, based on their DNA changes related to those diseases. “Finding the set of genomic variants that are … well polygenic risk scores work to determine risk for such diseases.” Since the field’s inception, the genomics …