10-year-old Daniel was a healthy active boy when his body began to swell. A massive overgrowth of his lymphatic system was overwhelming his major organs. Hakon Hakonarson, MD, PhD, Director of the Center for Applied Genomics, Children’s Hospital of Philadelphia said, 'He had such an overgrowth of the lymphatic vessels that he was leaking fluid into the pericardium, which is the membrane around the heart'. His team used zebrafish and a cancer drug to save his life.
Article by: UPMatters; November 16, 2019
Zebrafish to the Rescue!
The boy was dying. Zebrafish helped save his life
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
Heritability and genome-wide association study of benign prostatic hyperplasia (BPH) in the eMERGE network
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
2019 Distinguished Research Trainees Show Character and Creativity
Bumper scan of genomes pinpoints inherited risk factors for autism
Novel Gene Mutation found in Lymphatic Disorder
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
Disease Susceptibility and Diagnostics
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
CHOP and Edico Set World Record For Genome Analysis
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
Researchers identify gene variants linked to a high-risk children's cancer
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
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