Quantcast
Last updated on April 24, 2014 at 12:15 EDT

Latest Center for Applied Genomics Stories

Childhood Asthma Caused By Specific Genetic Variant
2013-11-18 05:13:02

redOrbit Staff & Wire Reports - Your Universe Online An international team of scientists has identified the primary genes that place some children at high risk of severe childhood asthma, according to research published Sunday in the journal Nature Genetics. Dr. Klaus Bønnelykke, a senior researcher at the Copenhagen Prospective Studies on Asthma in Childhood (COPSAC), the Danish Pediatric Asthma Center, Copenhagen University Hospital, and his colleagues believe that the specific...

2013-10-18 13:26:56

A gene important in skin tanning has been linked to higher risk for testicular cancer in white men, according to a study led by scientists from the U.S. National Institutes of Health and the University of Oxford in England. Nearly 80 percent of white men carry a variant form of this gene, which increased risk of testicular cancer up to threefold in the study. The research appeared online October 10, 2013 in the journal Cell, and is the result of an integrated analysis of big data supported...

2013-09-30 12:53:40

Brings to 110 known risk factors and provides important insight into disease mechanism Scientists of the International Multiple Sclerosis Genetics Consortium (IMSGC) have identified an additional 48 genetic variants influencing the risk of developing multiple sclerosis. This work nearly doubles the number of known genetic risk factors and thereby provides additional key insights into the biology of this debilitating neurological condition. The genes implicated by the newly identified...

2013-03-19 16:29:19

St. Jude Children's Research Hospital-led study links inherited variations in a few genes to a substantially increased risk of acute lymphoblastic leukemia and helps to explain ethnic differences in the cancer's incidence MEMPHIS, Tenn., March 19, 2013 /PRNewswire-USNewswire/ -- Humans have between 20,000 and 25,000 genes that carry instructions for assembling the proteins that do the work of cells. Work led by St. Jude Children's Research Hospital found that children who inherit certain...

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,...

2013-01-21 10:27:56

CHOP researcher leads large multicenter gene sequencing study of neuroblastoma An extensive genomic study of the childhood cancer neuroblastoma reinforces the challenges in treating the most aggressive forms of this disease. Contrary to expectations, the scientists found relatively few recurrent gene mutations–mutations that would suggest new targets for neuroblastoma treatment. Instead, say the researchers, they have now refocused on how neuroblastoma tumors evolve in response to...

2013-01-20 12:20:29

-- CHOP Researcher Leads Large, Multicenter Gene Sequencing Study of Neuroblastoma-- PHILADELPHIA, Jan. 20, 2013 /PRNewswire-USNewswire/ -- An extensive genomic study of the childhood cancer neuroblastoma reinforces the challenges in treating the most aggressive forms of this disease. Contrary to expectations, the scientists found relatively few recurrent gene mutations--mutations that would suggest new targets for neuroblastoma treatment. Instead, say the researchers, they have now...

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...

2013-01-15 07:17:33

SALT LAKE CITY, Jan. 15, 2013 /PRNewswire/ -- Lineagen, Inc. today announced publication of the results of a 9,000-person genetic study that demonstrates an approximately 100% increase in the detection rate of genetic markers now validated as being associated with autism spectrum disorders (ASDs). The study, one of the largest genetic validation studies in autism, was designed to confirm novel copy number genetic variants and novel next-generation sequence variants associated with ASDs....