Hakon Hakonarson
In the largest, most comprehensive genetic analysis of childhood-onset inflammatory bowel disease (IBD), an international research team has identified five new gene regions, including one involved in a biological pathway that helps drive the painful inflammation of the digestive tract that characterizes the disease.
A sophisticated computational algorithm, applied to a large set of gene markers, has achieved greater accuracy than conventional methods in assessing individual risk for type 1 diabetes.
Pediatric researchers have found that a gene previously shown to be involved in the development of type 2 diabetes also predisposes children to having a lower birth weight. The finding sheds light on a possible genetic influence on how prenatal events may set the stage for developing diabetes in later childhood or adulthood.
Genetics researchers have unveiled a powerful new resource for scientists and health providers studying human illnesses--a reference standard of deletions and duplications of DNA found in the human genome.
More pieces in the complex autism inheritance puzzle are emerging in the latest study from a research team including geneticists from The Children's Hospital of Philadelphia, the University of Pennsylvania School of Medicine and several collaborating institutions.
Pediatric researchers have identified hundreds of gene variations that occur more frequently in children with attention-deficit hyperactivity disorder (ADHD) than in children without ADHD. Many of those genes were already known to be important for learning, behavior, brain function and neurodevelopment, but had not been previously associated with ADHD.
Two new studies from The Children's Hospital of Philadelphia advance the search for genetic events that result in neuroblastoma, a puzzling, often-deadly type of childhood cancer.
Originating in the peripheral nervous system, neuroblastoma is the most common solid cancer of early childhood and causes 15 percent of all childhood cancer deaths.
UCLA scientists, in partnership with 30 research institutions across the country, have identified a new gene variant that is highly common in autistic children. And when researchers scrutinized the activity of the gene, known as CDH10, in the fetal brain, they discovered that it is most active in key regions that support language, speech and interpreting social behavior.
In three studies, including the most comprehensive study of autism genetics to date, investigators funded in part by the National Institutes of Health have identified common and rare genetic factors that affect the risk of autism spectrum disorders. The results point to the importance of genes that are involved in forming and maintaining the connections between brain cells.
Discovering the different genes that contribute to a complex disease is like searching in the proverbial haystack for an unknown number of needles--some much smaller than others, often blending into the background, and many of them widely separated from each other. But if some needles are linked to each other by fine threads, you might pull out clumps of them together.
