Gene scan finds link across array of childhood brain disorders

24-Aug-2010 - Mutations in a single gene can cause several types of developmental brain abnormalities that experts have traditionally considered different disorders. With support from the National Institutes of Health, researchers found those mutations through whole exome sequencing. "This is going to change ...

New approach to immune cell analysis seen as first step to better distinguish health and disease

11-Mar-2010 - Investigators have developed a new mathematical approach to analyze molecular data derived from complex mixtures of immune cells. This approach, when combined with well-established techniques, readily identifies changes in small samples of human whole blood, and has the potential to distinguish ...

Scientists Map Genetic Regulatory Elements for the Heart

Computational Model Can Be Used to Identify Regulatory Elements for Other Organs, Tissues

19-Feb-2010 - Scientists have devised a new computational model that can be used to reveal genetic regulatory elements responsible for development of the human heart and maintenance of its function. Although the teams focused on the heart, the computational method they developed is broadly applicable to other ...

NIH scientists identify maternal and fetal genes that increase preterm birth risk

Findings support view of preterm labor as immune response to infection or injury

05-Feb-2010 - Researchers at the National Institutes of Health have identified DNA variants in mothers and fetuses that appear to increase the risk for preterm labor and delivery. The DNA variants were in genes involved in the regulation of inflammation and of the extracellular matrix, the mesh-like material ...

Newly identified genes influence insulin and glucose regulation

19-Jan-2010 - An international research consortium has found 13 new genetic variants that influence blood glucose regulation, insulin resistance, and the function of insulin-secreting beta cells in populations of European descent. Five of the newly discovered variants increase the risk of developing type 2 ...

Scientists identify genetic cause of previously undefined primary immune deficiency disease

28-Sep-2009 - Researchers at the National Institutes of Health have identified a genetic mutation that accounts for a perplexing condition found in people with an inherited immunodeficiency. The disorder, called combined immunodeficiency, is characterized by a constellation of severe health problems, including ...

NIH study reveals new genetic culprit in deadly skin cancer

Sequencing work points to new target for melanoma treatment

02-Sep-2009 - Drawing on the power of DNA sequencing, National Institutes of Health researchers have identified a new group of genetic mutations involved in the deadliest form of skin cancer, melanoma. This discovery is particularly encouraging because some of the mutations, which were found in nearly ...

$19 million to Washington University scientists to decode microbe DNA and explore links to disease

24-Jun-2009 - The National Institutes of Health (NIH) has awarded scientists at Washington University School of Medicine in St. Louis four grants totaling $19 million to explore the trillions of microbes that inhabit the human body and determine how they contribute to good health and disease. The grants are ...

NIH funds Einstein center to target HIV-related brain disease

15-Jun-2009 - The National Institute on Drug Abuse of the National Institutes of Health has awarded a three-year, $3-million grant to Albert Einstein College of Medicine of Yeshiva University to establish a research center to study the neurological complications that afflict people infected with HIV, the virus ...

Stanford Scientists Pinpoint Key Proteins in Blood Stem Cell Replication

10-Oct-2008 - A family of cancer-fighting molecules helps blood stem cells in mice decide when and how to divide, say researchers at the Stanford University School of Medicine. Blocking the molecules’ function spurs the normally resting cells to begin proliferating strangely - making too much of one kind of ...