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Talking Glossary
Un oncogén es un gen que sufrió una mutación y que tiene el potencial de causar cáncer.
… oncogene is a mutated gene that has the potential to cause cancer. Before an oncogene becomes mutated, it is called a … and it plays a role in regulating normal cell division. Cancer can arise when a proto-oncogene is mutated, changing …
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 …
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 …
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 …
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, …
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 …
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
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 …
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 …