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Staff
Dr. Francis Collins was a senior investigator in Center for Precision Health Research.
… Huntington's disease, a familial endocrine cancer syndrome, and most recently, genes for type 2 diabetes, and the gene that causes Hutchinson-Gilford progeria syndrome, a rare condition that causes premature aging. Dr. … has been named "progerin". They also found that HGPS is associated with significant changes in the shape of the …
Educational Resources
A virus is an infectious agent that occupies a place near the boundary between the living and the nonliving.
… Acquired Immunodeficiency Syndrome (AIDS), Bacteria, Cell, Deoxyribonucleic Acid (DNA), …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… medical history is consistent with an autoinflammatory syndrome, or if there are other studies that may be more … Familial Mediterranean Fever (FMF) TNF Receptor Associated Periodic Fever Syndrome (TRAPS) Deficiency of …
The Genomics Landscape
In the March 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly appointed Dr. Chris Gunter's role as Senior Advisor for Genomics Engagement as well as the 30 oral histories to celebrate the 30th anniversary of the launch of the Human Genome Project.
… NHGRI Director and the Institute on issues and challenges associated with engaging the public about genomics and … DATA Scholars Program, DSI-Africa, ClinGen, Long QT Syndrome …
News Release
Daniel Kastner, M.D., Ph.D., Scientific Director for the Intramural Research Program at the National Human Genome Research Institute (NHGRI) recognized for his pioneering work on the genomics of autoinflammatory diseases.
… of causal genes for numerous diseases including tumor necrosis factor receptor-associated periodic syndrome (TRAPS) and …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… fever (FMF). She went on to discover mutations in the p55 tumor necrosis factor receptor that cause a dominantly-inherited periodic … mutations in the extracellular domains of the 55kDa TNF receptor (TNFR1) define a family of dominantly inherited … J, Soares M, Mansfield E, Hull K, et al. The TNF receptor-associated periodic fever syndrome (TRAPS): new mutations in …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… discovered that dominantly-inherited mutations in the p55 tumor necrosis factor receptor cause an inherited fever disorder they named … mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited … P, Kastner DL, Chae JJ, Bliska JB. The Yersinia Virulence Factor YopM Hijacks Host Kinases to Inhibit Type III …
The Genomics Landscape
In the October 2018 edition of The Genomics Landscape, NHGRI Director Dr. Eric Green highlights Dr. Dan Kastner as the Federal Employee of the Year.
… of a dominantly-inherited condition he named TRAPS (Tumor Necrosis Factor receptor-associated periodic syndrome). In the initial …
News Release
Daniel Kastner was named Federal Employee of the Year as part of the 2018 Samuel J. Heyman Service to America Medals program.
… the genetic basis for a recurrent fever syndrome named TNF receptor-associated periodic syndrome (TRAPS). Dr. Kastner has won numerous …
Profile
Dr. Joan Bailey-Wilson, who retired in September 2022, looks back on her 42-year career as a scientist and reflects on the rapid growth of the genomics field.
… BRCA1 gene. I also worked with Henry Lynch to find genes associated with colorectal cancer.  At the time, there was … cancer of the upper intestinal tract called a carcinoid tumor. It’s hard to clinically diagnose, and most people are … test individuals with cancer to see if they carry a gene associated with that cancer and possibly even identify the …