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… Workshop on Research Directions in Stevens-Johnson Syndrome Toxic Epidermal Necrolysis.pptx …
15 Ways Genomics Influences Our World
Genomics is helping us choose the right medication at the right dose for each patient.
… example of such an adverse reaction is Stevens-Johnson syndrome (SJS), a severe allergic reaction also called "scalded skin syndrome." It can be caused by infections, but also by very …
News Release
NIH researchers analyzed the gene activities of immune cells in children with mitochondrial disorders and found that their B cells, which produce antibodies to fight viral infections, are less able to survive cellular stress.
… disorder. Examples of mitochondrial disorders are Leigh’s syndrome, which primarily affects the nervous system, and Kearns-Sayre syndrome, which primarily affects the eyes and heart. Our …
Staff
Dr. Laura Koehly is the chief of and senior investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.​
… genetic risk communication within families for whom Lynch syndrome mutations and, separately, BRCA1/2 mutations, have … Reveal Two Growth Phenotypes in Mouse Models of Down Syndrome . Am J Obstet Gynecol . 2023 Aug … fetal and placental phenotyping in 3 mouse models of Down syndrome . Am J Obstet Gynecol . 2021 …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program prepares students for a M.S in Genetic Counseling from Johns Hopkins Bloomberg School of Public Health.
For Health Professionals
Archives of ISCC-PEG webinars, articles, case studies and more.
… Surgery Title:  Utilizing family history to identify Lynch Syndrome Type of Case Study: Family History In collaboration …
Staff
Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of NHGRI's Medical Genetics Branch.
… as a separate entity to the established cytokine release syndrome. Dr. Ombrello has become increasingly recognized as … Kastner DL, Ombrello AK . Cryopyrin-associated periodic syndrome caused by a myeloid-restricted somatic NLRP3 …
Partner with NHGRI
NHGRI's technologies, inventions and discoveries are available for licensing.
… … Mouse Models Mouse Model of Hutchinson-Gilford Progeria Syndrome and Vascular Abnormalities DHHS Reference No.: …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… These tests, however, typically focus only on Down syndrome and other common trisomies. A trisomy is a condition … and potentially reduce false-positive results for Down syndrome and other genetic conditions," said Diana W. …
Staff
Dr. Galarreta is a board-certified pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch.
… Slavotinek A. Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and … phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review . …