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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 … DT, Patronas NJ, Barber JS, Lee CC, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin JC, Ganson NJ, Kong HH, Hambleton S, …
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 … clinical evaluations. … Sagar A , Pinto D, Najjar F, Guter SJ, Macmillan C, Cook EH. de Novo unbalanced translocation … 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 …
News Release
The U.S. Food and Drug Administration has approved the first treatment for progeria, a rare and fatal pediatric disease, characterized by dramatic, rapid aging beginning in childhood.
… Alyssa Jones … Media Availability NIH Director Francis S. Collins, M.D., Ph.D., available to discuss this major … advance for rare, fatal pediatric disease. … What The U.S. Food and Drug Administration has approved the first … Progeria, also known as Hutchinson-Gilford progeria syndrome, is a rare, multisystemic disease that causes …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… that would take advantage of the NIH Clinical Center's resources, be likely to result in important scientific … to characterize the rate of mutations that lead to Sjögren's syndrome. Sjögren's syndrome is a chronic autoimmune disease …