Search Results
Research at NHGRI
A list of publications led by or in collaboration with the Center for Research on Genomics and Global Health.
… SN, Adeyemo A , Adebayo A, Achara P, Alabi B, Bakare RA, Famooto AO, Obende K, Offiong R, Olaniyan O, Ologun S, … M, Takeuchi F, Nano J, Lamri A, Nakatochi M, Moon S, Scott RA, Cook JP, Lee JJ, Pan I, Taliun D, Parra EJ, Chai JF, … Ruczinski I, Liu AH, Ober C, Taub MA, Barnes KC, Mathias RA. Multi-omics in nasal epithelium reveals three axes of …
Policy Issues
Genetic information is used by law enforcement to investigate criminal acts and exonerate those who have been convicted of crimes they did not commit.
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… amino acids and uric acid in the urine Early onset of arthritis and bone loss …
Policies and Guidance
NHGRI does not collect personally identifiable information about you on genome.gov unless you volunteer to provide it.
News Release
NIH released a Request for Information seeking comments on the data submission and access process for dbGaP.
File
… EA, Mustafa HM, Altohami HI, Gasm Alla h LT, Mohammed RA, Alamin TA . Polymorphisms in the Glutathione S … of the STAT4, CDKN1A and IRF5 Variants with Risk of Lupus Nephritis and Renal Biopsy Classification in Patients … LA, Hufnagel RB, Zein WM, Blain D, Brooks BP. Ocular and Systemic Findings in Adults wi th Uveal Coloboma. …
Research Funding
The three research domains to be considered for support by the NHGRI Ethical, Legal and Social Implications Research Program.
… individual patient — particularly patients who experience systemic stigmatization or discrimination based on their … shifts, public opinion or preferences and economics) and systemic practices and ideologies (e.g., ageism, ableism and … engage in genomics in different ways, the sources of systemic or structural inequities related to the field may be …
Staff
Dr. Sean Conlan is an associate investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.​
… cloacae transmission. [InPress] Hardiman CA, Weingarten RA, Conlan S, Khil P, Dekker JP, Mathers AJ, Sheppard AE, … Sison C, NISC Comparative Sequencing Program, Weingarten RA, Lau AF, Dekker JP, Palmore TN, Frank KM and Segre JA. … Cline M, Hall GS, Kaye KS, Jacobs MR, Kalayjian RC, Salata RA, Segre JA, Conlan S, Evans S, Fowler VG and Bonomo RA. …
Staff
Dr. Oleg Shchelochkov is Director of NHGRI Clinical and Laboratory Residencies and Fellowships, and an Associate Investigator in the Office of the Clinical Director.
… genomic therapies in propionic acidemia, specifically systemic AAV gene therapy, a lead indication for the Platform … NS, Lee B. Requirement of argininosuccinate lyase for systemic nitric oxide production. Nat Med 17(12):1619-26, … Bainbridge MN, Ben-Shachar S, Yatsenko S, Potocki L, Lewis RA, Searby C, Marcogliese AN, Elghetany MT, Zapata G, …
Event
On March 5-6, 2019, the Genomic Medicine Working Group hosted the Genomics in Health and Wellness Meeting in Bethesda, Maryland.