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Say Cheese
… NHGRI's Office of Communications invites you to schedule time with our … photos will require more time and will be taken outside due to COVID restrictions. To accommodate group photos, …
Staff
Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section.
… Dr. Stone attended medical school at the University of Florida College of Medicine. She completed her pediatrics residency at the Children’s Hospital of Pittsburgh and fellowship in Clinical Genetics from the … pyoderma gangrenosum, and acne), a condition difficult to treat in some severely affected individuals. She …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… genital ulcers, as well as vision destroying inflammation of the eyes. Research suggests the disease develops due to pathogen exposure, along with a mix of genetic and … many of which are involved in immune response to invading pathogens. The study - Dense genotyping of …
Research Funding
The Genomics-enabled Learning Health System (gLHS) Network aims to identify and advance approaches for integrating genomic information into existing learning health systems.
… Administration Research Institute Boston, MA VA Office of Rural Health VA Office of Primary Care The VA Genomics Learning Health System: … Ph.D. Paul R. Dexter, M.D. Indiana University School of Medicine Indianapolis, IN Eskenazi Health Community Health … results to optimize medical care. LHS have gained traction due to advancements in electronic health records (EHRs) and …
Educational Resources
A birth defect is an abnormality present at birth.
… factors, prenatal events during pregnancy or a combination of both. Some birth defects are easy to see (such as an extra or missing finger), while others (such as an enzyme deficiency) are identified through special tests. …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… byproduct stored in the lysosomes (recycling centers) of macrophages (clean-up cells of the immune system). In … with GD, this enzyme does not function correctly, leading to a buildup of that byproduct. The macrophages malfunction … months of life. There is generally no effective treatment due to the severe brain involvement and inability of current …
The Genomics Landscape
In the May 2020 edition of The Genomics Landscape, NHGRI Director Eric Green details how NIH is ramping up research on COVID-19; NHGRI's expansion of its Genome Technology Program; and the the DiY Genome: Unlocking Life's Code exhibition toolkit.
… Due to the current circumstance with the COVID-19 pandemic, the upcoming May meeting of the National Advisory Council on Human Genome Research … all local airports closed, NACHGR members could not travel to the area, forcing the February 2010 NACHGR meeting to be …
News Release
TCF1 (for T cell factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream.
… The gold standard for a successful vaccine is the creation of long-lasting antibodies that will defend the body against … has found a promising new area for vaccine developers to explore in search of that gold. … cells called T follicular helper (TFH) cells in response to a viral infection. These TFH cells then interact with …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30. … Crohn's disease, an idiopathic (of unknown cause), chronic inflammatory disorder of the … any region of the gastrointestinal tract from the mouth to the anus. The swelling and inflammation can go deeply into …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… Dr. Daniel Kastner in the Intramural Research Program of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) to work as a post-doctoral fellow on the positional cloning … as a s taff scientist. In 2010, she moved with Dr. Kastner to the National Human Genome Research Institute (NHGRI) and …