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
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CHOP’s Genome Center Contributes to Large Gene Study of an Adult Dementia
For Puzzling Childhood Immune Disorder, Gene Research Opens Door to First Diagnostic Test
Novel Therapy Improves Immune Function in Teen With Rare Disease
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
Thinking Outside the Block in Disease GeneStudies
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
Tallness Gene Discoveries Could Give Legs to Other Research
Gene Duplication Discovered in Patients with Major Depression
Major depression patients have a duplicated region of DNA on chromosome 5, according to a new research. 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.
Article by: Scify News; December 02, 2010
