Search Results
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 … Analyses Reveal Two Growth Phenotypes in Mouse Models of Down Syndrome . Am J Obstet Gynecol . 2023 Aug … from fetal and placental phenotyping in 3 mouse models of Down syndrome . Am J Obstet Gynecol . 2021 …
The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… a major form of craniosynostosis bears his name (Muenke syndrome). … Genomics Research Using microRNA to starve a … New NIH grant awards boost funding for research on Down Syndrome New NIH program provides comprehensive treatment for …
Educational Resources
NHGRI participates in the South By Southwest (SXSW) conference to help increase genomic literacy.
… imagine, it’s almost science fiction! Our panel will break down some of the most innovative technology currently being … to learn about where we come from. From stories passed down through generations to taking genetic ancestry tests, we …
Event
The National Museum of African American History and Culture presented an insightful conversation about advancements in genetic research and its implications for ​understanding race.
… Vence Bonham on how new findings in genetics tear down old ideas about race, grapple with ​the unfinished …
The Genomics Landscape
In the April 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the Telomere-to-Telomere (T2T) consortium's publishing of a collection of papers that reported the first truly complete sequence of the human genome.
… difficult to determine whether and how data can be shared down the line. To address this issue, the ClinGen Education, … Identity, and Sexual Orientation Norman Sharpless steps down as director of the National Cancer Institute Genome: …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… IDH1 mosaicism P237 Diagnosis of Cornelia de Lange Syndrome Through EPISign Whole Genome Methylation Assay: …
The Genomics Landscape
In the April 2024 issue of The Genomics Landscape, NHGRI Director Eric Green details how the Office of Genomic Data Science (OGDS) is becoming the epicenter for genomic data science at the institute, with numerous collaborations, projects and activities.
… metabolites—substances produced in the body by breaking down food, drugs, or other materials—in people with and … NIH, evaluating over 2,000 patients with recurrent fever syndrome and other autoinflammatory disorders. Learn more …
For Patients and Families
A child has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… in the country through Clinical Trails.gov , scroll down to Location and Contact Information, select the location …
File
… et al. Specific amino acid changes of congenital nephrotic syndrome in Indonesia. 2017 (In preparation). 5. Ariani Y , … AK, Ikolo FA, La Qua S, Shotelersuk V, Uwineza A , et al. Down syndr ome in diverse populations. Am J Med Genet Part A. … M -K, Jones KL , Abdul -Rahman OA , Ekure EN , et al . Down syndrome in diverse populations . Am J Med Genet Part A. …
Intramural Training Office
Three-minute talk (TmT) presentation videos from previous years dating back to 2015.
… and Response to Treatment in Hutchinson-Gilford Progeria Syndrome Abhirami Thaivalappil Postbaccalaureate Fellow, …  Gene Expression & Bioinformatics for Prenatal Therapy in Down Syndrome Sarah E. Lee Postdoctoral Fellow, Medical Genetics …