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Epigenomics is a field in which researchers chart the locations and understand the functions of all the chemical tags that mark the genome.
… by abnormal imprinting. They include Beckwith-Wiedemann syndrome, a disorder associated with body overgrowth and increased risk of cancer; Prader-Willi syndrome, associated with poor muscle tone and constant hunger, leading to obesity; and Angelman syndrome, which leads to intellectual disability, as well …
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 …
File
… Workshop on Research Directions in Stevens-Johnson Syndrome Toxic Epidermal Necrolysis.pptx …
News Release
Researchers find weaker immune response to viral infections in children with mitochondrial disorders
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 …
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 …
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 …
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. …
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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.: …
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 . …