Search Results
About NHGRI
The Board of Scientific Counselors evaluates the NHGRI intramural research programs and provides periodic technical and scientific peer review.
… The Board of Scientific Counselors previews and evaluates the intramural research programs of the National Human Genome Research Institute (NHGRI) and provides periodic technical and scientific peer review of the work of our research … The Board of Scientific Counselors previews and evaluates the intramural research programs of the …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke, and have also uncovered new details about an important … their findings may provide new clues to underlying genetic and biochemical influences in the development of stroke and …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of … Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly occurring in children, that … years of age, most children experience recurrent seizures and diminishing mental function. The infant gradually …
Clinical Research
A study for patients with unexpected genetic results
… A new study is recruiting people who received unexpected genetic test results about their risk for cancer, heart disease, and other conditions after having genetic testing done for some other reason. … Many of these results are related to cancer risk and heart conditions . If you think you have received a …
Clinical Research
The INSIGHTS study is exploring sickle cell disease in adults.
… The Insights into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS) study is exploring sickle … at many factors, including genomic, microbial, physical and social influences. … recruiting volunteers! Each study participant will have a clinical visit that will include a medical and family …
Clinical Research
The Institutional Review Board (IRB)Â is responsible for protecting the rights and welfare of the human subjects of research protocols that are conducted by intramural investigators in NHGRI and a number of other institutes.
… Board (IRB) is responsible for protecting the rights and welfare of the human subjects of research protocols that are conducted by intramural investigators in NHGRI and a number of other institutes. … The OHSRP promotes the protection of rights, safety and welfare of human subjects, and the NIH’s research …
Clinical Research
The Protocol Service Center provides assistance in the development and administration of study protocols requiring NIH Institutional Review Board approval.
… protocol navigation assistance to NIH investigators and staff in the development and administration of study protocols that require NIH … navigators with knowledge of the protocol review cycle and expertise in Institute and NIH policies and procedures, … of resources for the investigator wishing to conduct clinical research. Services that the PSC can provide to …
Research at NHGRI
The Genetics and Molecular Biology Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms.
… The Genetics and Molecular Biology Branch uses state-of-the-art genetic and genomic technologies to study the genomes of humans and … of the branch is to demonstrate that research findings and opportunities derived from genetic and genomic … resources of NHGRI intramural laboratories, the NIH Clinical Center and intramural collaborations across NIH, the …
News Release
ASHG members selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and investigator with NHGRI, as their new president-elect for 2019.
… (ASHG) members have selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and long-time investigator with the National Human Genome … As the senior investigator and chief of NHGRI's Medical Genomics and Metabolic Genetics Branch, Dr. Biesecker leads a program …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Autosomal Dominant Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the growth of numerous … slowly replaces much of the normal mass of the kidneys, and can reduce kidney function and lead to kidney failure. … It is present at birth in 1 in 400 to 1 in 1,000 babies, and it affects approximately 400,000 people in the United …