Center for Applied Genomics

A core team of proteins involved in learning may play an important role in autism, according to a new study.
Article by: Spectrum; September 29, 2016
 

An international team of researchers who discovered a new gene disorder that causes severe childhood epilepsy leveraged that finding to reduce seizures in two children. The collaborators’ case report reflects the potential of precision medicine -- applying basic science knowledge to individualize treatment to a patient’s unique genetic profile.
Article by: ScienceDaily; September 20, 2016
 

Meeting Features Academic, Industry Leaders in Applying New Gene Research Tools to Health and Medicine.
Article by: Newswise; September 07, 2016
 

Analyzing whole-genome sequences, researchers found that any given individual carries more than 5,000 variants that delete, duplicate, invert, insert or otherwise scramble segments of DNA. Traditional methods miss a large proportion of these variants, the researchers say.
Article by: Spectrum; April 14, 2016
 

A mutation to the TBCK gene causes the syndrome, which causes moderate to severe developmental delays, low muscle tone and seizures.
Article by: UPI Health News; April 04, 2016
 

Researchers at The Children's Hospital of Philadelphia (CHOP) say they identified a gene that looks like it plays a significant role in raising a person's risk of having more severe subtypes of autism that co-occur with other genetic diseases, such as the chromosomal disorder 22q11.2 deletion syndrome. Variations in this gene, RANBP1, may disrupt brain signaling in different neuropsychiatric conditions, a finding that could open new research opportunities for treatment for multiple neurological diseases, according to the scientists.
Article by: Genetic Engineering and Biotechnology News; January 20, 2016
 

The results from this study enable us to better understand the genetic component of these diseases and how they are genetically related to each other, thereby explaining why different autoimmune disorders often run in the same family.
Article by: ScienceLine; Novermber 13, 2015
 

A Children's Hospital of Philadelphia-led team of researchers has quantified the heritability of nine pediatric-onset autoimmune diseases. CHOP's Hakon Hakonarson and his team examined genotyping data from more than 5,000 unrelated pediatric autoimmune disease patients and 36,000 controls and found that type 1 diabetes and juvenile idiopathic arthritis had the highest levels of heritability, as they reported today in Nature Communications.
Article by: GenomeWeb; October 09, 2015
 

Researchers will analyze DNA sequencing in common pediatric conditions and evaluate how sharing this information with patients impacts treatment decisions.
Article by: Philly Voice; September 19, 2015
 

CHOP researchers conducted a meta-analysis of 10 childhood-onset autoimmune diseases — such as inflammatory bowel disease, type 1 diabetes, and juvenile idiopathic arthritis, among others — to uncover 22 loci that were shared among multiple pediatric autoimmune diseases, as they reported today in Nature Medicine.
Article by: GenomeWeb; August 24, 2015