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News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… is poorly understood. … NHGRI researchers from Dan Kastner, M.D. Ph.D.'s group in the Inflammatory Disease … in Behçet's disease susceptibility [nature.com] Dr. Daniel Kastner, M.D., Ph.D. News Release : Genetic mystery of …
News Release
Researchers used whole genome sequence data to investigate the origin of the mutation that causes "sickling" of red blood cells.
… Amy Bentley … Daniel Shriner and Charles Rotimi, researchers at the Center … on Genomics and Global Health, CRGGH, Charles Rotimi, Daniel Shriner … Researchers used whole genome sequence data …
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.
… 2,560 patients shared variations in the same gene,” said Daniel Kastner, M.D., Ph.D., scientific director of the Intramural … of these seemingly unrelated, disparate diagnoses,” Dr. Kastner said. The researchers hope that this new genome-first …
News Release
Researchers at NHGRI have discovered an immune mechanism in humans that perceives threats and was found only in plants.
… characterized as hand grenades. Credit: Darryl Leja Dan Kastner, M.D., Ph.D., the scientific director of the Division … first demonstration of the guard mechanism in humans," Dr. Kastner said. In normal human physiology, the innate immune … immune system, inflammasone, human guard mechanism, Dan Kastner, familial Mediterranean fever, FMF … Researchers at …
News Release
Laura Koehly, Ph.D., has been named chief of NHGRI's Social and Behavioral Research Branch.
… to weave together their talents and research," said Dan Kastner, M.D., Ph.D., NHGRI scientific director. "Her ability … Koehly, Social and Behavioral Research Branch, SBRB, Dan Kastner, Lynch Syndrome, social and behavioral science … …
Research at NHGRI
The NHGRI Division of Intramural Research aims to advance the frontiers of genetics and genomics.
… Of Genetic Disorders, Rare Diseases, Common Diseases, Dan Kastner … The NHGRI Division of Intramural Research aims to …
News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
… was still no explanation for his symptoms, explained Dan Kastner, M.D., Ph.D., scientific director of the National … Inflammatory Disease Section at NHGRI.   From L to R: Dan Kastner, M.D., Ph.D., Rohith's mother, Rohith Lokesh, Kalpana … care. Image Credit: Ernesto del Aguila III, NHGRI   Dr. Kastner, who specializes in inflammatory conditions, was …
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… determine that a variant is implicated in disease," said Daniel MacArthur, M.D., Ph.D., first author and an assistant … M.D., Ph.D., genomic mutations and disease, Teri Manolio, Daniel MacArthur, M.D., Ph.D. … Researchers recommend genomic …
The Genomics Landscape
In the April 2021 issue of the Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D. talks about the NIH UNITE program's goal to end structural racism in biomedical research.
… in last month’s issue of The Genomics Landscape , Dan Kastner M.D., Ph.D., has announced that he plans to step down … Director of the NHGRI’s Intramural Research Program, Dan Kastner, M.D., Ph.D., has been awarded the American Medical … contributions to advance public health. Dr. Kastner received this award for his pioneering work in rare …
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.
… in the journal Nature . … NHGRI scientific director Daniel Kastner, M.D., Ph.D., a pioneer in the field of … answers in the genome, a person’s complete set of DNA. Kastner and his team sequenced gene regions across the genome …