Center for Applied Genomics

The boy was quickly running out of options. His legs and belly were swelling like sponges, his lungs kept filling with fluid so badly that he needed an oxygen tank, and the extreme measures his physicians had tried worked only temporarily. But the boy lived. Born with a rare, complex genetic condition, he owes his life to zebrafish, the nearly transparent creatures that have become the go-to lab animal in countless studies of genetics, development, and disease. Hakonarson and his colleagues identified the mutation causing the boy’s illness, in which lymphatic vessels proliferate out of control and leak fluid into the lungs and other organs; engineered the mutation into zebrafish; waited for the fish to develop a piscine version of the boy’s disease; tested multiple drugs on the fish; found one that stopped the vessels’ kudzu-like growth; and got permission from federal health officials to try it on their young patient. It worked.
Article by: STAT; July 01, 2019
 

Benign prostatic hyperplasia (BPH) results in a significant public health burden due to the morbidity caused by the disease and many of the available remedies. As much as 70% of men over 70 will develop BPH. Few studies have been conducted to discover the genetic determinants of BPH risk. Understanding the biological basis for this condition may provide necessary insight for development of novel pharmaceutical therapies or risk prediction.
Article by: UroToday; April 28, 2019
 

Children’s Hospital of Philadelphia Research Institute recognizes the unique and remarkable trainees who have been nominated by their mentors across CHOP through the Distinguished Research Trainee Awards.
Article by: Children's Hospital of Philadelphia Research Institute; April 11, 2019
 

A new analysis of DNA from more than 20,000 people with autism identifies 12 regions in the genome that harbor inherited risk factors for the condition. The findings appear today in Nature Genetics.
Article by: Spectrum News; February 25, 2019
 

CAG Leads First Large-Scale Genetic Study of Migraine in Children and in African-Americans.
Article by: Eureka Alert; October 11, 2018
 

CAG researchers have identified a gene mutation that causes a serious lymphatic condition, and used that knowledge to restore normal lymphatic vessels in model animals. The laboratory findings may lead to a new therapy for patients with this type of abnormal lymphatic circulation.
MedicalXpress; August 28, 2018
 

Using Edico Genome’s DRAGEN pipeline on 1,000 Amazon EC2 F1 instances, the Children’s Hospital of Philadelphia (CHOP) and Edico Genome set a new scientific world standard last week in rapidly processing whole human genomes. CHOP used the DRAGEN pipeline to process 1,000 whole pediatric genomes in two hours and twenty-five minutes.
Facebook-Hosted Panel Discussion; March 27, 2018
 

Using Edico Genome’s DRAGEN pipeline on 1,000 Amazon EC2 F1 instances, the Children’s Hospital of Philadelphia (CHOP) and Edico Genome set a new scientific world standard last week in rapidly processing whole human genomes. CHOP used the DRAGEN pipeline to process 1,000 whole pediatric genomes in two hours and twenty-five minutes.
Article by: Bio-IT World; October 23, 2017
 

Pediatric researchers in the Roberts Collaborative for Genetics and Individualized Medicine at Children's Hospital of Philadelphia have identified common gene variants that raise the risk of developing an aggressive form of the childhood cancer neuroblastoma. The discovery may assist doctors in better diagnosing subtypes of neuroblastoma.
Article by: EurekaAlert!; September 25, 2017
 

The Center for Data Driven Discovery in Biomedicine at Children's Hospital of Philadelphia (CHOP) will lead a new, collaborative effort funded by the National Institutes of Health Common Fund to discover the causes of pediatric cancer and structural birth defects through the use of big data. The Center will be known as the "Kids First Pediatric Data Resource Center" (DRC).
Article by: EurekaAlert!; August 15, 2017