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Research Training
The Summer Internship Program in Biomedical Research provides students the opportunity to perform biomedical research with some of the world's best scientists.
… The Summer Internship Program in Biomedical Research provides students at all levels the opportunity to perform biomedical research alongside some of the world's most accomplished … the underlying causes of human genetic disease, leading to the development of novel methods for the …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
… The Big Picture Sickle cell disease is an inherited disorder caused by a change in the … (FDA) approved two gene therapies to treat sickle cell disease. More than 50 scientists, physicians, patients and … sickle cell disease and the gene therapy and biomedical research communities.  …
Research at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
… The investigators in the Center for Precision Health Research (CPHR) develop and evaluate cutting edge genomic and … to improve the diagnosis, treatment and prevention of disease to foster next-generation healthcare. … common diseases associated with common genetic variants to rare diseases associated with rare variants. They also study …
News Release
Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.
… unknown illness. Researchers at the National Human Genome Research Institute (NHGRI), part of the National Institutes … have now identified the cause of the illness, a new disease called CRIA syndrome. The results were published in … has characteristics typical of an autoinflammatory disease, where the immune system appears to be activated …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease (SCD). … to explore two approaches for reducing the burden of the disease. The first approach will let researchers correct the … concerned about treatment risks and transparency of the research enterprise, according to National Institutes of …
Clinical Research
A study to learn more about the role of viral infection and biomarkers of immunity in mitochondrial disease, utilizing new technology with Neoteryxâ„¢ fingerstick at-home sampling.
… infection and biomarkers of immunity in mitochondrial disease using new technology with Neoteryx ™ fingerstick … of the immune system in people with mitochondrial disease by using the Neoteryx ™ fingerstick at-home blood … invite household members of patients with mitochondrial disease to participate. …
Staff
Dr. ​Adam Felsenfeld is a program director in the Division of Genome Sciences at the National Human Genome Research Institute.​
… specific responsibility for the NHGRI Centers for Common Disease Genomics program and the GSP Analysis Centers. Dr. … He has broad interests in the genomics of inherited disease, comparative genomics, genome structure and … genome sequencing, DNA sequencing, common diseases, rare diseases …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… of nearly 20 papers published online in 2014 highlights research on the use of DNA biorepositories and electronic … (EMRs) to better understand the underlying genomics of disease. Many of the studies point to new associations of … (NIH). The major goal of eMERGE is to better understand disease risk and susceptibility and, ultimately, improve …
Research at NHGRI
CRGGH uses genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, diabetes, dyslipidemia, and kidney disease.
… The Center for Research on Genomics and Global Health (CRGGH) uses genomic … led by or in collaboration with the Center for Research on Genomics and Global Health. … and statistical models to gain fundamental insights into disease etiology, differential distribution of disease, and …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… researchers have identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring … The team's discovery coincides with findings by an Israeli research group that identified an overlapping set of variants … role in revealing the genomic basis for an important rare disease," said Eric D. Green, M.D., Ph.D., director of …