CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

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

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

Scientists at The Children's Hospital of Philadelphia have identified a number of areas along the genome that could play a role in the genetic underpinnings of eating disorders.
Article by: MSNBC; November 22, 2010

Scientists at The Children's Hospital of Philadelphia have identified both common and rare gene variants associated with the eating disorder anorexia nervosa. In the largest genetic study of this psychiatric disorder, the researchers found intriguing clues to genes, including those active in neuronal signaling and in shaping interconnections among brain cells.
Article by: The Children's Hospital of Philadelphia; November 19, 2010

A new study by pediatric researchers has added to the evidence that genes have a strong influence on childhood obesity.
Article by: The Children's Hospital of Philadelphia; October 14, 2010

As the director of the Center for Applied Genomics at Children's Hospital of Philadelphia, Hakon Hakonarson has led a variety of genome-wide association studies to detect the genetic causes of childhood diseases such as attention-deficit hyperactivity disorder, asthma, autism, diabetes, epilepsy, inflammatory bowel disease, pediatric cancer, and schizophrenia.
Article by: GenomeWeb; October 12, 2010

To find genes associated with EoE, a team of researchers led by Dr. Marc Rothenberg at the Cincinnati Children’s Medical Center Hospital and Dr. Hakon Hakonarson at the Children’s Hospital of Philadelphia performed a genome-wide association analysis.
Article by: Quest for Cures; July 28, 2010

Scientists have found dozens of new autism-related genes, according to a study that eventually could help doctors develop better ways to diagnose and treat the condition.
Article by: USA Today; June 10, 2010

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