Search Results
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 …
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 …
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 …
Talking Glossary
GMO (short for “genetically modified organism”) is a plant, animal or microbe in which one or more changes have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the characteristics of an organism.
… have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the … have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the … as making human insulin, producing fermented beverages and developing pesticide resistance in crop plants. …
Clinical Research
The Institutional Review 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.
… 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 …
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 …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program prepares students for a M.S in Genetic Counseling from Johns Hopkins Bloomberg School of Public Health.
… The JHU/NIH Genetic Counseling Training Program prepares students for a Master of Science degree (ScM) in Genetic Counseling from the Department of Health, Behavior and Society, Johns Hopkins Bloomberg School of Public Health. … a minimum of six hundred contact hours of supervised clinical rotations in a variety of settings, and completion …
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… Cystic fibrosis (CF) is the most common, fatal genetic disease in the United States. About 30,000 people in … sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas, which stops digestive enzymes from … acts as a channel that allows cells to release chloride and other ions. But in people with CF, this protein is …
Research Funding
Building upon a foundation of quantitative genetics laid over a century ago, applying modern genomic approaches to resolve how genetic and non-genetic factors shape variation in human diseases and traits.
… forces that have shaped the number, frequency, and interactions of alleles influencing traits, and to identify potential levers of intervention to better … about how to identify and interpret the interplay of genetic and non-genetic factors on trait variation. These …