Search Results
News Release
ASHG members selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and investigator with NHGRI, as their new president-elect for 2019.
… of development and overgrowth such as Pallister-Hall syndrome, McKusick-Kaufman syndrome and Proteus syndrome. He initiated ClinSeq® , a large-scale medical … Medical Genomics and Metabolic Genetics Branch, Proteus syndrome, ClinSeq …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… they must show at least two of the aforementioned symptoms associated with NF1. A physical examination by a doctor … treatment may include surgery or back braces. For symptoms associated with NF2, surgery may be a viable option, however … . Radiation treatment, may also help relieve symptoms associated with NF2. …
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 retrovirus is a virus that uses RNA as its genetic material.
… Acquired Immunodeficiency Syndrome (AIDS), Cancer, Cell, Deoxyribonucleic Acid (DNA), … which infect other cells. Many retroviruses are associated with diseases, including AIDS and some forms of …
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 …
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 …
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 …
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 …