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News Release
A the largest genomics study of clear cell endometrial cancer (CCEC) tumors has identified mutations in the TAF1 gene.
… … In the largest genomics study of clear cell endometrial cancer (CCEC) tumors to date, National Human Genome Research … rare types of endometrial cancer, generally have poorer clinical outcomes: One study reported that women with CCEC … a rare type of endometrial cancer, generally have poorer clinical outcomes. Image Credit: Darryl Leja, NHGRI.  Dr. …
News Release
How well cancer patients fare after chemotherapy can be affected by their social interaction with other patients during treatment.
… Jeannine Mjoseth … How well cancer patients fare after chemotherapy can be affected by … and the University of Oxford in the United Kingdom. … Cancer patients were a little more likely to survive for five … role in disease outcomes," said Dr. Koehly. "As cancer care moves more towards targeted therapies based on genomic …
News Release
Researchers from The Cancer Genome Atlas Research Network identify novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma.
… Steven Benowitz … Researchers from The Cancer Genome Atlas (TCGA) Research Network have identified novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma, the most … primary federal agency conducting and supporting basic, clinical, and translational medical research, and is …
News Release
A repurposed cancer drug appears to reduce the severity of lesions and pain experienced by people with Proteus syndrome
… Jeannine Mjoseth … A repurposed cancer drug appears to reduce the severity of lesions and … It affects fewer than 500 individuals in the world. Clinical trials participant Jerry DeVries (right) receives … goal in using the drug was very different from its use in cancer therapy. In cancer, the objective is to eliminate all …
News Release
NIH researchers have identified a striking signature in tumor DNA that occurs in five different types of cancer.
… in tumor DNA that occurs in five different types of cancer. They also found evidence that this methylation signature may be present in many more types of cancer. The specific signature results from a chemical … primary federal agency conducting and supporting basic, clinical and translational medical research, and is …
Profile
NHGRI researchers recently published a study using virtual reality simulations to investigate how clinicians might use a type of genomic risk information called polygenic risk scores in medical care.
…  We know from previous research that primary care providers generally don’t have a lot of experience with … almost as a pre-diagnosis.  Lastly, we saw differences in clinical recommendations based on patient race. For example, … with a specific health condition such diabetes and cancer. The study was conducted by the research group headed …
Event
The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.
… The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on regulatory medicine and clinical trials in Mendelian disorders. The series will …
News Release
Clinical geneticist to lead NHGRI’s clinical genomics research efforts
… Sarah A. Bates, M.S. … Clinical geneticist to lead NHGRI’s clinical genomics research efforts … The National Human … in both fundamental genomics research and patient care. I am thrilled to welcome him to the NHGRI leadership …
Talking Glossary
A cancer-susceptibility gene is a gene that, when changed (or mutated), gives an individual an increased risk for developing cancer
… Cancer-Susceptibility Gene … A cancer-susceptibility gene is a gene that, when changed (or … gives an individual an increased risk for developing cancer … A cancer-susceptibility gene is a gene that, when …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… a variety of conditions, including heart disease, breast cancer, and hearing loss. … Our goal is to enroll 1500 … volunteers for the study. Each member of the study has a clinical visit and tests to look at heart health. Study … the coming years at their own expense  Have a primary care physician or have access to a community health center  …