Search Results
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 …
Fact Sheet
Viruses are bundles of genetic material wrapped in a protein coat that can infect living things.
… disease in humans, including: Acquired immunodeficiency syndrome (AIDS) Viral agent: Human immunodeficiency virus …
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 . …
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 …
Fact Sheet
Eugenics is the scientifically erroneous and immoral theory of “racial improvement” and “planned breeding,”
… is at heightened risk for genetic disorders, such as Down Syndrome and spina bifida. The emergence of statistical …
Staff
Dr. Settara Chandrasekharappa is an associate investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… of the encoded proteins, responsible for Alagille syndrome and multiple endocrine neoplasia type 1. His current … in Menkes disease, Parkinson's disease, and Bardet-Biedl syndrome 1. CGU developed and employed BAC arrays for … positional cloning of the gene responsible for Alagille syndrome (AGS), a congenital disorder characterized by …
Staff
Joannella Morales is a program director in NHGRI's Division of Genomic Medicine.
… at Baylor College of Medicine, where she studied Fragile X Syndrome. She received her B.S. in Biology from the …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… for 17 genes reported to be associated with long QT syndrome, a congenital heart condition that predisposes … as having limited or disputed evidence for causing the syndrome, and confirmed only three of the genes to be … awards to support training in research related to Down Syndrome as part of the INCLUDE Project Mentored career …
Staff
Alanna Kulchak Rahm, is a certified genetic counselor, implementation scientist, and Program Director in the Division of Genomic Medicine.
… chains associated with optimal implementation of Lynch syndrome tumor screening: An application of coincidence … oncogenomics model: improving the identification of Lynch syndrome . Front Oncol . 2023 May 26;13:1140135. doi: … V, Rahm AK. Economic Evaluation of Universal Lynch Syndrome Screening Protocols among Newly Diagnosed Patients …
Profile
Dr. Pavan looks back on his career at NHGRI, highlights pivotal moments and shares his future plans in artistic woodworking and community mediation.
… type of skin cancer, and the genetic condition Waardenburg syndrome type 4. He also identified lysosomal transmembrane …