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News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… disease. "This research constitutes a major advance," said Daniel Kastner, M.D., Ph.D., NHGRI scientific director anddirector … 7-10 million people worldwide. Read the study Elma Aflaki, Daniel K. Borger, Nima Moaven, Barbara K. Stubblefield, …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… immunodeficiency disease. NHGRI Scientific Director Daniel Kastner, M.D., Ph.D., led the team of collaborators from NIH … that the patients were born with a genetic condition," Dr. Kastner said. "We used a whole-exome screen to locate genetic …
News Release
After several decades as a major genomics leader, Eric Green is elected to the National Academy of Medicine, one of the highest honors in medical science.
… anyone more deserving of this honor than Eric Green," said Daniel Kastner, M.D., Ph.D., NIH Distinguished Investigator in the …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… in the former Yugoslavia. In 1990 she joined Dr. Daniel Kastner in the Intramural Research Program of the National … group as a s taff scientist. In 2010, she moved with Dr. Kastner to the National Human Genome Research Institute …
News Release
Clinical geneticist to lead NHGRI’s clinical genomics research efforts
… down at the end of 2018, and NHGRI Scientific Director Daniel Kastner, M.D., Ph.D., has served as acting clinical director …
Staff
Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section.
… a Senior Staff Fellow for 2 years. In 2007, she joined Dr. Daniel Kastner’s group that studies autoinflammatory diseases … . N Engl J Med . 2019 Apr 18;380(16):1582-1584. Stone DL , Kastner DL (2019). Pyogenic arthritis, Pyoderma gangrenosum …
The Genomics Landscape
In the November 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, celebrates the 30th anniversary of the NHGRI Intramural Research Program as well as announces the launch of a new digital history archive.
… Ph.D. (1993-2002), Eric Green, M.D., Ph.D. (2002-2011), Daniel Kastner M.D., Ph.D. (2011-2021), and Charles Rotimi, Ph.D. … Ph.D. , senior advisor to the NHGRI Director. …   Dan Kastner, M.D., Ph.D. , was recently featured in a podcast …
The Genomics Landscape
In the February 12, 2021 edition of The Genomics Landscape, Dr. Eric Green talks about the 20-year anniversary of the publications that reported the draft human genome sequence.
… and director of the Division of Intramural Research, Dan Kastner, M.D., Ph.D., has been awarded the prestigious … follows a particularly prolific and impactful year for Dr. Kastner and his group’s research into autoinflammatory diseases. Throughout his career, Dr. Kastner has greatly advanced our understanding of the genetic …
News Release
NHGRI researchers have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children. Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), which could lead to new treatments.
… which means the disease is usually underdiagnosed,” said Daniel Kastner, M.D., Ph.D., senior author of the paper and NHGRI …
Profile
After a lifelong obsession with completing things, Adam Phillippy has helped in the final completion of the human genome sequence. The researcher talks about his life path to genomics, his relationship with perfection and his next big thing.
… and he didn’t look like the typical candidate,” says Daniel Kastner, M.D., Ph.D., former scientific director of the … “It was an extra-credit type of thing to him,” remembers Kastner. “You know, ‘I’ll do this and this and then, if I …