Search Results
15 Ways Genomics Influences Our World
Genomics is helping us choose the right medication at the right dose for each patient.
… Understanding pharmacogenomics, or tailoring a person's medications based on their genome, would not be possible … our bodies' pathways involved in changing the medicine's form or in getting medicines to the right places. For … example of such an adverse reaction is Stevens-Johnson syndrome (SJS), a severe allergic reaction also called …
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.
… Gordon-Lipkin, M.D., assistant research physician in NHGRI’s Metabolism, Infection and Immunity Section and co-first … disorder. Examples of mitochondrial disorders are Leigh’s syndrome, which primarily affects the nervous system, and …
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.​
… Dr. Koehly joined the NHGRI faculty in 2005. Dr. Koehly's research focuses on developing and applying social network … affected by hereditary disease. … Under Dr. Koehly's leadership, the Social Network Methods Section focuses on … genetic risk communication within families for whom Lynch syndrome mutations and, separately, BRCA1/2 mutations, have …
File
… Workshop on Research Directions in Stevens-Johnson Syndrome Toxic Epidermal Necrolysis.pptx …
For Health Professionals
Archives of ISCC-PEG webinars, articles, case studies and more.
… Anneke Seller and Dr. Michelle Bishop, Health Education's Genomics Education Programmes  (May 17, 2017) … Musunuru K, … entrustable professional activities identified by the ISCC's Competency Working Group. These case studies also include … 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.
… and pediatric rheumatology from Cardinal Glennon Children’s Medical Center and Saint Louis University. In 2010, she … physician, she leads the Inflammatory Disease Section’s clinical team overseeing the care of greater than 2000 … as a separate entity to the established cytokine release syndrome. Dr. Ombrello has become increasingly recognized as …
Partner with NHGRI
NHGRI's technologies, inventions and discoveries are available for licensing.
… Disease Type C (NPC) DHHS Reference No.: E-060-2013 U.S. Patent 9,983,200 issued on May 29, 2018 Lead Inventor: … PCT/US2016/026524; national phases entered in the U.S., Europe, and Canada in October 2017 Lead Inventor: Charles … … 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 … chief of the Prenatal Genomics and Therapy Section at NIH's National Human Genome Research Institute (NHGRI). Dr. Bianchi is also the director of NIH's Eunice Kennedy Shriver National Institute of Child Health …
Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… Hospital in Oxford, England and University Children’s Hospital in Athens, Greece. She then moved to the US and … genetics training through the combined NHGRI and Children’s National Hospital program, and was board certified in 2009. … on an extramural-intramural collaborative grant on Moebius syndrome and related facial weakness disorders, with …
Staff
Dr. Galarreta is a board-certified pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch.
… physician in Genetics and Metabolism at Valley Children’s Hospital in Madera, California. In 2023, she joined as a Staff Clinician in Dr. Charles Venditti’s Organic Acid Research Section in the Metabolic Medicine … Slavotinek A. Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and …