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News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of the … discussion by describing the latest developments of the U.S. Precision Medicine Initiative (PMI). Other noteworthy … peripheral blood of African Americans related to metabolic syndrome and abdominal obesity. (Health Services Research) …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… a broader understanding of cancer occurrence. Dr. Stewart's research focuses on neurofibromatosis type 1 (NF1), a … stromal tumors and pulmonary hypertension. Dr. Stewart's group is using genomic approaches to identify genetic … pleuropulmonary blastoma (PPB) cancer predisposition syndrome. This disorder represents the first reported cancer …
Staff
Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section.
… She completed her pediatrics residency at the Children’s Hospital of Pittsburgh and fellowship in Clinical Genetics … Fellow for 2 years. In 2007, she joined Dr. Daniel Kastner’s group that studies autoinflammatory diseases resulting from … CRIA (cleavage-induced RIPK1-induced autoinflammatory syndrome), among others. She is presently working on more …
15 Ways Genomics Influences Our World
Genomics is revolutionizing health assessments before birth.
… an unborn baby using a small sample of a pregnant mother's blood? Pregnancy can be a stressful time, and for many … genetic testing, such as for a condition like Down syndrome, had to undergo invasive procedures to get a fetal … of fetal DNA that naturally circulates in the mother's blood during pregnancy. Pregnant women now have the option …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… fever (FMF), and later stayed in the same group as a s taff scientist. In 2010, she moved with Dr. Kastner to the … receptor that cause a dominantly-inherited periodic fever syndrome now known as TRAPS (the TNF receptor-associated … mutations in TNFAIP3 in patients with early-onset Behçet's-like disease, denoted haploinsufficiency of A20 (HA20), and …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… enabling their use in genomic medicine and research. NIH's Clinical Genome Resource ( ClinGen ) and ClinVar programs … stored in ClinVar, which is funded and maintained by NIH's National Center for Biotechnology Information, part of the … is a group of rare genetic conditions that include Noonan syndrome, Cardio-Facio-Cutaneous syndrome, Costello syndrome …
Fact Sheets
Chromosome abnormalities can either be numerical or structural and usually occur when there is an error in cell division.
… of a pair. A structural abnormality means the chromosome's structure has been altered in one of several ways. … … "sex chromosomes." Sex chromosomes determine an individual's sex: females have two X chromosomes (XX), and males have an … of a condition caused by numerical abnormalities is Down syndrome, which is marked by mental disability, learning …
Staff
Dr. Sagar is a staff clinician in the Neurobehavioral Clinical Research Section in Dr. Philip Shaw’s lab at the National Human Genome Research Institute.
… Clinical Research Section in Dr. Philip Shaw’s lab at the National Human Genome Research Institute.  She … the University of California, Irvine and at the Children’s National Medical Center, Washington, DC.  She also worked … deletion) in a patient with autism, OCD, and overgrowth syndrome . Am J Med Genet A . 2107 Jun; 173(6):1656-1662. …
Fact Sheets
Chromosomes are thread-like structures located inside the nucleus of animal and plant cells.
… fail to develop properly. For example, people with Down syndrome have three copies of chromosome 21, instead of the … located outside the nucleus that serve as the cell's powerhouses. Scientists think that, in the past, … invaded cells lacking the power to tap into oxygen's power, the cells retained them, and, over time, the …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… for diverse populations. Curriculum Vitae … Dr. Adeyemo's research is on the genetic epidemiology of complex diseases … major public health and clinical significance. Dr. Adeyemo's research has focused on the genetic risk factors for these … loci ( HLADQA1 and PLCG2 ) for steroid-sensitive nephrotic syndrome (PMID 25349203) were reported in his collaborative …