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Genomic Medicine XVI: Host Genomics and Infectious Disease

On December 12-13, 2024, NHGRI and NIAID co-sponsored the 16th Genomic Medicine meeting, Genomic Medicine XVI: Host Genomics and Infectious Disease, in Bethesda MD.

… Genomic Medicine meeting, Host Genomics and Infectious Disease: Opportunities for Implementing Genomic Medicine , in … Ave … Genomic Medicine XVI: Host Genomics and Infectious Disease … On December 12-13, 2024, NHGRI and NIAID … Genomic Medicine XVI: Host Genomics and Infectious Disease, in Bethesda MD. … On December 12-13, 2024, NHGRI and …

News Release

The NIH Undiagnosed Diseases Network adds five new sites

UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.

… to use that knowledge to reduce the burden of neurological disease. About the National Institutes of Health (NIH): NIH, …

The Genomics Landscape

NIH Undiagnosed Disease Program Celebrates 10th Anniversary

In the July 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program.

… to direct the program today. With the goal of improving disease management for individual patients and advancing … basic researchers to identify the underlying mechanisms of disease. Training clinicians in the use of contemporary … New Evidence that Viruses May Play a Role in Alzheimer's Disease Novel Drug Therapy Partially Restores Hearing in Mice …

News Release

Decades after rare disease diagnosis, family and physician hail genomic breakthrough

In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.

… misdiagnosed the children with Moebius Syndrome, a disease characterized by facial paralysis. "My sister Tonya … colleagues described and named the children's very rare disease, Carey-Fineman-Ziter syndrome (CFZS). Thirty-five … of Health." Sadly, Tonya Hanson developed restrictive lung disease and died of pneumonia when she was 37 years …

News Release

NIH awards $50.3 million for “multi-omics” research on human health and disease

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

Researchers discover a new autoinflammatory disease called CRIA syndrome

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 …

News Release

NIH researchers tackle thorny side of gene therapy

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

Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks

NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.

… predict how a certain type of cancer will progress , find disease-causing genomic variants and identify genetic … and imaging data. After working with propionic acidemia disease experts to create a system to classify patients into … their children after learning about their child’s genomic risk for health conditions. Using immersive virtual reality …

News Release

NIH names new clinical sites in Undiagnosed Diseases Network

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 …

News Release

NIH researchers reveal link between powerful gene regulatory elements and autoimmune diseases

NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.

… those with autoimmune disorders such as inflammatory bowel disease or rheumatoid arthritis. … Improved Understanding of … Stephen I. Katz, M.D., Ph.D. "Knowledge of the genetic risk factors helps us assess a person's susceptibility to disease. With further research on the associated biological …