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News Release
Investigators with The Cancer Genome Atlas Research Network have identified new potential therapeutic targets for a major form of bladder cancer.
… (which is commonly affected in cancers) in 44 percent of tumors. TP53 makes the p53 tumor suppressor protein, which … identified potential drug targets in 69 percent of the tumors evaluated. They found frequent mutations in the ERBB2 … responsible for cervical cancer - was found in bladder tumors. This suggests that viral infection can contribute to …
Staff
Dr. Bell is a senior investigator at the National Human Genome Research Institute's Cancer Genetics and Comparative Genomics Branch.
… somatic mutations in PI3-kinase in endometrial tumors, thus uncovering previously unrecognized cohorts of … alterations that drive clinically aggressive endometrial tumors, and to understand their functional consequences. Dr. … the genetic and genomic alterations that drive solid tumors. In her previous position at Massachusetts General …
The Genomics Landscape
In the September 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, recaps the April 2023 virtual reunion of the leaders of the five genome-sequencing centers (G5), where they tell the untold story on how they ushered the Human Genome Project across the finish line in 2003.
… of a gene called GATA2, a gene known to be important for brain stem development. These findings demonstrate the …
News Release
The TCGA network describes uterine and bile duct cancer.
… uncontrolled cell growth that is the hallmark of malignant tumors. Last month, two publications from the TCGA network …
News Release
Researchers from The Cancer Genome Atlas Research Network identify novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma.
… identified, clinicians may be able to treat patients whose tumors have specific gene changes with drugs currently …
Staff
Dr. Sudre is an Associate Investigator in Dr. Philip Shaw's Neurobehavioral Clinical Research within the Social and Behavioral Research Branch
… at Carnegie Mellon University investigating how the human brain represents information. More specifically, they looked for semantic information in the brain while subjects perform several cognitive tasks and used … with machine learning techniques to classify different brain states. Previously, Dr. Sudre was part of the Human …
For Patients and Families
​Pharmacogenomics combines the science of how drugs work, called pharmacology, with the science of the human genome, called genomics.​
… (Herceptin). This therapy works only for women whose tumors have a particular genetic profile that leads to … (Tarceva), work much better in lung cancer patients whose tumors have a certain genetic change. On the other hand, … very well in the 40 percent of colon cancer patients whose tumors have a particular genetic change. Pharmacogenomics may …
News Release
NHGRI researchers find that specific abnormal chromosomal patterns in prenatal blood tests warrant whole-body MRI cancer screening.
… cases, the atypical results can be explained by benign tumors, autoimmune diseases, or blood abnormalities in the … Many of them had lymphoma and, in some cases, rare tumors. Often, the participants are in the early stages of … who were found to not have cancer, some had benign tumors in the uterus, known as fibroids; abnormal chromosomal …
Genetic Disorders
Attention Deficit Hyperactivity Disorder (ADHD) is a neurological disorder that affects a person's ability to control their behavior and pay attention to tasks.
… are: 1) familial: ADHD often runs in families; 2) abnormal brain development; or 3) brain injuries occuring before, during or after birth. … Brain images of children with ADHD may show differences …
Staff
Dr. Philip Shaw was an investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.
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… environmental factors that influence the development of brain and behavior. A focus of his work was the most common … factors in shaping the developmental trajectories of brain and behavior. The program focused on one of the most … to behavioral processes that can be mapped directly onto brain structure and function. The work linking brain …