Search Results
News Release
NHGRI researchers have developed the Families Sharing Health Assessment and Risk Evaluation (SHARE) workbook, which helps people use their family history to assess their risk for heart disease, diabetes, breast cancer and colorectal cancer.
… to assess their risk for heart disease, diabetes, breast cancer and colorectal cancer. Since 2012, Laura Koehly, Ph.D., and her research … trees associated with heart disease, diabetes, breast cancer and colorectal cancer. Definitions of each disease and …
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 …
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 …
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 …
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 … and are at high risk for developing certain types of cancer, and mental disability. The term "WAGR" stands for the … condition: (W)ilms' Tumor, the most common form of kidney cancer in children. (A)niridia, some or complete absence of …
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 … inherited diabetes. Using genomics to prescribe heart and cancer drugs At Vanderbilt University Medical Center in …
Profile
Dr. Joan Bailey-Wilson, who retired in September 2022, looks back on her 42-year career as a scientist and reflects on the rapid growth of the genomics field.
… Early in my career, I was involved in breast cancer risk modeling that led to Mary-Claire King discovering … with Henry Lynch to find genes associated with colorectal cancer.  At the time, there was huge controversy on the existence of genes that contributed to breast cancer and colorectal cancer. In the 1970s and 1980s, many …
Staff
Dr. Lawrence Brody is a senior investigator in NHGRI's Social and Behavioral Research Branch and director of NHGRI's Division of Genomics and Society.
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… in normal metabolic pathways and cause disorders such as cancer and birth defects. His laboratory focuses on … variants of this type, such as those in known breast cancer-linked genes, are of great medical importance. The … have a higher risk of developing both breast and ovarian cancer than women without such mutations. His group also …
Staff
Dr. Heidi Sofia served as a program director in the Division of Genomic Medicine at the National Human Genome Research Institute from 2010-2023.
… NHGRI in 2010 as part of the team responsible for The Cancer Genome Atlas (TCGA) initiative in cancer genomics, jointly managed by NHGRI and the National Cancer Institute (NCI). TCGA was instrumental in setting the …
Fact Sheets
Epigenomics is a field in which researchers chart the locations and understand the functions of all the chemical tags that mark the genome.
… associated with body overgrowth and increased risk of cancer; Prader-Willi syndrome, associated with poor muscle … changes can lead to uncontrolled growth, a hallmark of cancer, or to a failure of the immune system to destroy … treating patients with the drug temozolomide, which kills cancer cells by adding methyl groups to DNA. In some cases, …