Search Results
Research at NHGRI
CRGGH facilitates understanding of the relationship between genetic variation and population differences in disease distribution to inform health disparities.
… obesity, hypertension, diabetes, dyslipidemia, and kidney diseases, in different human populations with …
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 …
News Release
A new phase of the IGNITE Network will conduct clinical trials of genomic medicine interventions.
… treatment of high blood pressure, hypertension and chronic kidney disease. Both hypertension and high blood pressure exacerbate end-stage kidney diseases, and all three conditions are more common … L1 ( APOL1 ) gene that increase susceptibility to severe kidney disease by a factor of 10. Researchers will compare …
Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
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 …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… problems such as strokes, seizures and low muscle tone, kidney problems, poor vision, and metabolic instability … problems such as strokes, seizures and low muscle tone, kidney problems, poor vision, and metabolic instability … system, rehabilitation, digestive tract, endocrine and kidney, as needed. A 24-hour urine collection to examine for …
News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.
… ease some of the symptoms, but do not cure the disease. Kidney transplantation, on the other hand, is necessary when … patients would benefit from a liver or combined liver/kidney transplant as opposed to just a kidney transplant is an important clinical decision for …
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 …