Center for Applied Genomics

New research published Molecular Autism used genome wide association study (GWAS) data to find a variation in the gene for transducin ß-like 1X-linked (TBL1X) which is associated with increased risk of ASD in boys.
Article by: Science Daily; November 3, 2011
 

The first clinical uses of whole-genome sequencing show just how challenging it can be.
Article by: Nature; October 5, 2011
 

Type 1 diabetes affects 200 million people worldwide. A research team led by CAG Director, Hakon Hakonarson, have discovered new genes that will help them better understand the origin of this complex disorder.
Article by: CBS News; October 4, 2011
 

Dr. Brendan Keating of the Center for Applied Genomics (CAG) conceived and developed the cardiovascular chip used to identify five new genes that affect the risk of developing coronary artery disease (CAD) and heart attacks.
Article by: The Children's Hospital of Philadelphia; September 22, 2011
 

Besides adding to growing evidence that ADHD has a strong genetic underpinning, findings may help explain why those with the condition sometimes exhibit certain symptoms seen in other neurodevelopmental conditions, such as autism spectrum disorder, schizophrenia and bipolar disorder.
Article by: The Canadian Press; August 16, 2011
 

The Center for Applied Genomics at CHOP contributed important pediatric data to the largest-ever genetic study of multiple sclerosis (MS), published on August 11 in the journal Nature
Article by: CHOP Press; August 10, 2011
 

CAG scientists have contributed to the world's most detailed genetic map, culminating years of research into the DNA of African Americans and how genetic changes contribute to the risk of disease.
Article by: CHOP Press; July 23, 2011
 

As New Data Wave Begins, a Gene Study in One Disease Discovers Mutations in an Unrelated Disease
Article by: Chop Press; July 20, 2011
 

Harnessing the new generation of rapid, highly accurate gene-sequencing techniques, Gholson Lyon and colleagues have identified the disease-causing mutation in a newly characterized rare genetic disease, by analyzing DNA from just a few individuals
Article by: Genetic Engineering and Biotechnology News; June 28, 2011
 

To home in on the disease-causing mutation, the researchers used a new software programme, the Variant Annotation, Analysis & Search Tool (VAAST), that compared the family members' genomes with sequences from nearly 200 other people.
Article by: Nature News; June 23, 2011