Quantcast
Last updated on April 17, 2014 at 21:23 EDT

Latest Hakon Hakonarson Stories

2013-02-05 10:30:49

CHOP researchers compared young to old populations, identified CNVs conferring long-term risk or protection By broadly comparing the DNA of children to that of elderly people, gene researchers have identified gene variants that influence lifespan, either by raising disease risk or by providing protection from disease. "This research is the first genome-wide, population-based study of copy number variations in children associated with human longevity," said study leader Hakon Hakonarson,...

Gene Variants In Autistic Patients Identified
2013-01-15 18:33:10

Lee Rannals for redOrbit.com — Your Unvierse Online Researchers wrote in the journal PLOS ONE they have identified 25 additional copy number variations (CNVs) which occur in some patients with autism. These CNVs are "high impact," and although they are individually rare, each one has a strong effect in raising an individual's risk for autism. "Many of these gene variants may serve as valuable predictive markers," the study's corresponding author, Hakon Hakonarson, MD, PhD,...

2013-01-15 12:26:44

--Copy Number Variants, While Rare, Have Strong Effects; May Have Value in Predictive Tests for Children-- PHILADELPHIA, Jan. 15, 2013 /PRNewswire-USNewswire/ -- Genetics researchers have identified 25 additional copy number variations (CNVs)--missing or duplicated stretches of DNA--that occur in some patients with autism. These CNVs, say the researchers, are "high impact": although individually rare, each has a strong effect in raising an individual's risk for autism. "Many of these...

2011-12-05 13:08:11

Children's Hospital of Philadelphia research suggests that interventions at the glutamate transmission level might treat disorder Pediatric researchers analyzing genetic influences in attention-deficit/hyperactivity disorder (ADHD) have found alterations in specific genes involved in important brain signaling pathways. The study raises the possibility that drugs acting on those pathways might offer a new treatment option for patients with ADHD who have those gene...

2011-12-04 12:00:00

--Children's Hospital of Philadelphia Research Suggests that Interventions at the Glutamate Transmission Level Might Treat Disorder-- PHILADELPHIA, Dec. 4, 2011 /PRNewswire-USNewswire/ -- Pediatric researchers analyzing genetic influences in attention-deficit/hyperactivity disorder (ADHD) have found alterations in specific genes involved in important brain signaling pathways. The study raises the possibility that drugs acting on those pathways might offer a new treatment option for...

2011-10-03 05:47:57

(Ivanhoe Newswire) -- Type 1 diabetes affects 200 million people worldwide. Now, researchers have discovered new genes that will help them better understand the origin of this complex disorder. In a study published online today in Public Library of Science Genetics (PLoS Genetics), two doctors described their findings. The genes were uncovered during the largest-ever analysis of available genetic data related to type 1 diabetes, a process called meta-analysis. Study leader Hakon...

Meta-analysis Finds New Genes For Type 1 Diabetes
2011-09-30 04:41:29

Children's Hospital of Philadelphia researchers add to gene inventory of a complex disorder The largest-ever analysis of genetic data related to type 1 diabetes has uncovered new genes associated with the common metabolic disease, which affects 200 million people worldwide. The findings add to knowledge of gene networks involved in the origin of this complex disorder, in which patients depend on frequent insulin injections to control their blood sugar levels. "Genome-wide association...

2011-01-04 03:57:23

Technique leverages gene-dense data chip for new discoveries As much as 90 percent of variation in adult height may be caused by genetic inheritance, but a multitude of genes are involved. Most of these have yet to be discovered. Now a new meta-analysis of data from more than 100,000 people has identified variants in over two dozen genes that were not previously associated with height. The study also confirmed genetic associations in more than 30 previously known height genes. "Although the...

2010-12-02 15:37:35

Finding by CHOP researchers points to disruptions in brain signaling networks A large genetic study of people with major depression has found that a duplicated region of DNA on chromosome 5 predisposes people to the disorder. The gene involved plays an important role in the development of nerve cells, adding to evidence that disruptions in neurotransmission networks form a biological basis for depression. "The copy number variations we discovered were exclusive to people with depression, and...

2010-05-10 16:36:00

-- Study Finds Deletions and Repeats in DNA Sequences -- PHILADELPHIA, May 10 /PRNewswire-USNewswire/ -- By analyzing the genomes of patients with schizophrenia, genetics researchers have discovered numerous copy number variations -- deletions or duplications of DNA sequences -- that increase the risk of developing schizophrenia. Significantly, many of these variations occur in genes that affect signaling among brain cells. "When we compared the genomes of patients with schizophrenia to...