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News Release
NIH-backed African scientists are engaged in a global research endeavor to understand the genetic basis of disease in all populations.
… borders with biological materials is often problematic: Fragile samples can get held up for weeks in customs. …
Fact Sheet
A variety of approaches target the blood stem cells to relieve or reduce your symptoms of sickle cell disease.
… decrease the hemoglobin S, your cells will not be fragile or even sickle. As a result, these approaches can …
Fact Sheet
Early in the COVID-19 pandemic, researchers used state-of-the-art genomic sequencers to quickly sequence the SARS-CoV-2 virus.
… of mRNA in a short period of time. … … mRNA is a fragile molecule, so researchers put it into a fatty lipid …
Health FAQ
Discuss these questions with your doctor or health care provider.
… lower the sickled hemoglobin enough, the cells will not be fragile, sticky or even sickle. This can decrease the …
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.
… at Buffalo 2:00 p.m. to 2:20 p.m. — Carriers: What the Fragile X Gene Reveals About Scientific Discovery Anne Skomorowsky, …
File
… are known to cause human diseases and alter human traits – Fragile X Syndrome – ALS (amyotrophic lateral sclerosis) • About 80% …
Staff
Dr. Ferreira is a staff clinician in the Medical Genomics and Metabolic Genetics Branch and the head of the Skeletal Genomics Unit.
… , Lewanda A, Mayfield JE, Moresco E,Ludwig S, Tang M, Li X, Lyon S, Xie X, Khanshour A, Paria N, Khalid A, Li Y, Feng J, Xu Q, Lu Y, … CR , Kavanagh D, Oheim R, Zimmerman K, Stürznickel J, Li X, Stabach P, Luke RL, Calderone L, MacKichan C, Wang A, …
Staff
Dr. Chris Gunter is a senior advisor to the NHGRI director on genomics engagement.
… in human genetics at Emory University in 1998, studying fragile X syndrome and mechanisms of dynamic mutation. She then moved … Reserve University and completed both postdoctoral work on X chromosome inactivation and an editorial fellowship at the …
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… errors of metabolism. Affected patients are medically fragile and suffer from multisystemic complications, … MR, Rosenblatt DS, Venditti CP, and Shaikh TH. An X-linked cobalamin disorder caused by mutations in …
Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute.
… 2001. Sood R , Blake T, Aksentijevich I, Wood G, Chen X, Gardner D, Shelton DA, Pras E, Balow JE, Centola M, Deng … mapping of two new DNA markers in Xq26-q28 relative to the fragile X syndrome locus . Am J Hum Genet 47(3): 395-401, 1990. … …