CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

CAG in the Press

In findings that may speed the search for disease-causing genes, a new study challenges the prevailing view that common diseases are usually caused by common gene variants (mutations). Instead, say genetics researchers, the culprits may be numerous rare variants, located in DNA sequences farther away from the original "hot spots" than scientists have been accustomed to look.
Article by: The Children's Hospital of Philadelphia; May 26, 2010
 

Genetics researchers analysed the genomes of patients with schizophrenia and found numerous copy number variations-deletions or duplications of DNA sequences-that increase the risk of developing the neurodegenerative disease.
Article by: The Times of India; May 23, 2010
 

Major variations in the number of genes carried in a person's genome have been linked with schizophrenia, in a study that provides further evidence of the important role played by genetics in raising the risk of the illness, which affects one in 100 people.
Article by: The Independent (UK); May 11, 2010
 

Pediatric researchers analyzing DNA variations in type 1 diabetes and inflammatory bowel disease have found a complex interplay of genes. Some genes have opposing effects, raising the risk of one disease while protecting against the other. In other cases, a gene variant may act in the same direction, raising the risk for both diseases.
Article by: The Children's Hospital of Philadelphia; March 22, 2010
 

Pediatrics researchers have identified the first major gene location responsible for a severe, often painful type of food allergy called eosinophilic esophagitis (EoE). In this disease, which may cause weight loss, vomiting, heartburn and swallowing difficulties, a patient may be unable to eat a wide variety of foods.
Article by: The Children's Hospital of Philadelphia; March 08, 2010
 

The genetic underpinnings of many diseases remain elusive, and computer simulations and experimental data suggest a reason why: the true culprit may be masked by a more obvious suspect.
Article by: Nature News; January 26, 2010