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
 

The Center for Applied Genomics at CHOP contributed important scientific analysis to a recent international study of the rare brain disease progressive supranuclear palsy (PSP), published on June 19 in the journal Nature Genetics.
Article by: Penn Medicine; June 19, 2011
 

Though autism and related disorders vary widely from person to person, certain brain changes may be at the root of the disorder
Article by: ScienceNews; May 25, 2011
 

A new genomics study, led by the Center for Applied Genomics at The Children's Hospital of Philadelphia, sets the stage for the first predictive diagnostic test in a serious immunodeficiency disease in children
Article by: The Children's Hospital of Philadelphia; May 11, 2011
 

In a novel approach that works around the gene defect in Wiskott-Aldrich syndrome, an inherited immune deficiency disorder, researchers used an alternative cell signaling pathway to significantly improve immune function in a 13-year-old boy with the disease.
Article by: Science Daily; April 14, 2011
 

In the decade since the Human Genome Project produced the first map of DNA sequences in the human genome, scientists throughout the world have combed through genome data to identify genes and gene variants that cause human disease. A new study suggests that researchers may need to broaden their search farther afield to pinpoint rare but powerful disease-causing mutations.
Article by: Science Centric; January 26, 2011
 

Our NEJM paper on genetic variations associated with risk for childhood asthma is ranked as 23andMe's number 2 genetic story of 2010.
Article by: 23andMe; January 15, 2011
 

A defective gene appears to contribute to most cases of childhood asthma, a finding that could lead to a better understanding of allergies, U.S. researchers reported on Wednesday.
Article by: National Post; January 1, 2011
 

Using a process that could help unravel the causes of a variety of complex diseases, scientists probing the genetics of height have discovered dozens more uncommon variants, adding to the nearly 200 already known.
Article by: Medpage Today; December 30, 2010