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The Genomics Landscape
In the December 3, 2020 edition of The Genomics Landscape, Dr. Eric Green spotlights on ELSIhub.
… between this SNP and the risk of one disease, fragile X syndrome. I could only dream that 20+ years later, we would … NIH research help lead to first FDA-approved treatment for progeria Notable accomplishments in genomic medicine COVID-19 …
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: …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics. 
… disease PB2372 Gustavo Nieto-Alamilla Hermansky-Pudlak Syndrome: Exploring the therapeutic effect of gene therapy … in human cancers  PB5151 Molly Behan Hermansky-Pudlak Syndrome: Using AAV vectors to understand the development of …
News Release
Clinical applications of genomics in neurology and psychiatry will be the focus of the 2014 lecture series Genomics in Medicine at Suburban Hospital.
Event
NHGRI and the University at Buffalo Center for Disability Studies will hold a two-day symposium on October 6-7, 2022 to address historical constructions of disability and ableism, with a focus on the “irreducibility” of individuals with disability and the history of disability.
… Conceals Social Determinants: The Case of Down Syndrome and COVID-19 Sara M. Bergstresser, Columbia …
File
… Exploring the Microbiome and Its Connection to Metabolic Syndrome
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Clinical and Basic Investigations into Hermansky-Pudlak Syndrome Albinism Clinical, Cellular, and Molecular … Albinism Alkaptonuria Study of Alkaptonuria Alstrom Syndrome Clinical and Molecular Investigations into … Disease and Congenital Hepatic Firbrosis Bardet-Biedl Syndrome Clinical and Molecular Investigations into …
Staff
Dr. Ours is an Assistant Research Physician at the Center for Precision Health Research, NHGRI.
… of segmental overgrowth disorders which focus on Proteus syndrome, tumor predisposition, and molecularly undiagnosed … of miransertib, a pan-AKT inhibitor, in the Proteus syndrome study ( NCT04316546 ). … Ferguson R, Scurr I, Ours … JJ, Pike K, & Spentzou G. Co-occurrence of Proteus syndrome and ventricular tachycardia cardiac arrest in a …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… medical history is consistent with an autoinflammatory syndrome, or if there are other studies that may be more … Fever (FMF) TNF Receptor Associated Periodic Fever Syndrome (TRAPS) Deficiency of Adenosine Deaminase 2 (DADA2) … VEXAS (Vacuoles, E1 ligase, X-linked Autoinflammatory Syndrome) Haploinsufficiency of A20 (HA20) Sideroblastic …
Genetic Disorders
Poland anomaly is an underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side.
… side (ipsilateral hand). Sometimes referred to as "Poland syndrome," it is an uncommon condition present at birth … Additional Resources for Poland Anomaly Medscape: Poland Syndrome MedicineNet: Poland Syndrome Medline Plus: Poland Syndrome Genetics Home …