Search Results
Talking Glossary
Un oncogén es un gen que sufrió una mutación y que tiene el potencial de causar cáncer.
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
… syndrome is associated with an increased risk for breast cancer, a rare tumor called extragonadal germ cell tumor, … Syndrome, Extra X Chromosome, Infertility, Gynecomastia, Breast Cancer, Extragonadal Germ Cell Tumor, Lung Disease, Varicose …
Event
Annual scientific lecture honoring NHGRI's founding scientific director, Jeffrey M. Trent, Ph.D.
… MIT and Harvard, will present the lecture, Perspectives on Cancer Precision Medicine . Dr. Golub is a world leader in using genomics tools to understand the basis of cancer. He also pioneered the development of new cell-based approaches to drug discovery for cancer and other diseases. Golub is also the Charles A. Dana …
Clinical Studies
The IDENTIFY Study is a study exploring how prenatal blood test results for the baby might also detect cancer in the mother.
… asymptomatic person.   I’ve already been diagnosed with cancer. Can I still participate? Yes. If you were diagnosed with cancer after receiving an abnormal or non-reportable NIPT … participants for up to 5 years. If you are diagnosed with cancer, we will collect information from you, but you will …
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
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. … 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
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
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. … 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 …
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.
… of?  Bailey-Wilson: Early in my career, I was involved in breast cancer risk modeling that led to Mary-Claire King discovering … controversy on the existence of genes that contributed to breast cancer and colorectal cancer. In the 1970s and 1980s, … in your research career?  Bailey-Wilson: There’s a rare cancer of the upper intestinal tract called a carcinoid …
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 … associated with Erdheim-Chester disease also linked to cancer …