Center for Applied Genomics

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
 

CHOP Research’s Distinguished Research Trainee Awards provide institution-wide recognition for exceptional CHOP Research trainees. The 2015 Awards sees two young researchers from the Center for Applied Genomics each claim the prestigious award.
Article by: Cornerstone (CHOP); June 05, 2015
 

In the largest genetic study to date of a challenging immunodeficiency disorder, CAG scientists have identified a gene that may be a "missing link" between overactive and underactive immune activity. The gene candidate also plays a key role in autoimmune diseases such as type 1 diabetes, rheumatoid arthritis and allergies.
Article by: Medical XPress; April 22, 2015
 

A new study from The Children’s Hospital of Philadelphia shows body mass index (BMI) during infancy may help to predict if a child will be obese by age four.
Article by: CHOP Cornerstone; March 24, 2015
 

Genomics researchers from the Center for Applied Genomics (CAG) at The Children’s Hospital of Philadelphia investigating a serious, rare disease called common variable immunodeficiency (CVID) have discovered a gene linked to immune defense.
Article by: CHOP Cornerstone; March 13, 2015
 

Scientists in Philadelphia have identified four new genes associated with the severe food allergy eosinophilic esophagitis (EoE). Because the genes appear to have roles in other allergic diseases and in inflammation, the findings may point toward potential new treatments for EoE.
Article by: Science Codex; November 21, 2014