Search Results
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… and are at high risk for developing certain types of cancer, and mental disability. … WAGR syndrome is a rare … a type of kidney cancer called Wilms' tumor. In the early stages of Wilms' tumor there are usually no symptoms. … disorder, anxiety disorders, and depression. Early-onset overweight (obesity) and high blood cholesterol levels. …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease … editing as a treatment for disease. Many diseases from cancer to asthma have genetic bases. Through the application … commercial labs around the world. Treatments for HIV and cancer are being tested in clinical trials in patients. In …
Event
A series focusing on a specific topic of genomic research by pairing an early career researcher funded under NHGRI’s Genomic Innovator Award Program with an established researcher whose own contributions have paved the way for the specific research area.
… Award  Program, which supports innovative work by early-career genomics investigators who are part of consortia … on a specific topic of genomic research by pairing an early career researcher funded under NHGRI’s Genomic … Since these awards support highly innovative work by early career genomics investigators who are part of consortia …
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
… opening new avenues for research on skin diseases and cancer in all populations. … These findings may help … from these regions is thought to reduce skin damage and cancer. In contrast, lighter pigmentation of people in … the DNA loci and associated genes that play roles in skin cancer susceptibility and the effects of UV radiation." In …
News Release
NHGRI has awarded the American Society of Human Genetics (ASHG) a five-year, $7.1 million contract to support a new Genomics and Public Service Fellowship Program, which will provide early-stage professionals with experience in a range of genomics careers.
… and Public Service Fellowship Program, which will provide early-stage professionals with experience in a range of … and Public Service Fellowship Program, which will provide early-stage professionals with experience in a range of … and Public Service Fellowship Program, which will provide early-stage professionals with experience in a range of …
The Genomics Landscape
In the August 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recognizes the recipients for the Presidential Early Career Award for Scientists and Engineers (PECASE), the highest honor given by the U.S. Government to outstanding scientists and engineers who are beginning their independent research careers.
… in genomics over the last three decades – from the early years of the Human Genome Project to today’s efforts in … the White House awarded the latest set of Presidential Early Career Award for Scientists and Engineers (PECASE). The … System Change and Procedure for Requesting an Extension to Early Stage Investigator (ESI) Status NIH & NHGRI News …
News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… malnutrition, pediatric HIV in Africa and childhood-onset essential hypertension. Dr. Hanchard's program aims to … childhood malnutrition, pediatric HIV in Africa, childhood-onset essential hypertension … NHGRI has appointed Neil …
News Release
NIH grants aim to gauge if genomics can be used to help diagnose diabetes, manage heart disease and guide cancer clinicians to the most effective drugs.
… keep heart disease patients out of hospitals and guide cancer clinicians and patients to the most effective drugs. … … on genomically guided prescriptions of cardiovascular and cancer drugs. David Flockhart, M.D. , Ph.D. , Indiana … Cancer Medicine Initiative (PCMI) tests lung cancer, breast cancer, colorectal cancer and melanoma patients for …
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
… in adulthood, usually after age 30. Symptoms of adult-onset spinal muscular atrophy are usually mild to moderate … form of SMA than types 0, I or II. Symptoms appear between early childhood (older than age 1 year) and early adulthood. Individuals with type III SMA are able to …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… V600E gene mutations, which is sometimes seen in colon cancer, lung cancer, thyroid cancer, brain tumors and some blood cancers. Other patients …