Center for Applied Genomics

Researchers from Children's Hospital of Philadelphia (CHOP) have shown there may be key genetic differences in the causes of attention-deficit hyperactivity disorder (ADHD) between African Americans and people of European ancestry, which may play an important part in how patients of different ethnic backgrounds respond to treatments for this condition.
Article by: PR Newswire; Sep 22, 2020
 

Researchers at the New Jersey Institute of Technology and CHOP have developed an algorithm through machine learning that helps predict sites of DNA methylation - a process that can change the activity of DNA without changing its overall structure. The algorithm can identify disease-causing mechanisms that would otherwise be missed by conventional screening methods.
Article by: National Science Foundation; Aug 14, 2020
 

Children’s Hospital of Philadelphia is among the recipients of a $75 million, five-year grant that will investigate the combination of genomic and environmental factors and their role in susceptibility to disease in diverse populations.
Article by: Cornerstone Blog; July 27, 2020
 

Ten US research centers will receive $61 million over 5 years to develop protocols for evaluating disease risk for diverse populations, based on genomic and environmental factors. The National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), announced the awards July 1.
Article by: AJMC; July 10, 2020
 

The National Institutes of Health has announced the provision of funding for the Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment and Management Network, which establish protocols and methodologies for improved genomic risk assessments for diverse populations and to integrate their use in clinical care. The eMERGE Network is supported by the National Human Genome Research Institute (NHGRI), part of NIH.
Article by: genome.gov; July 1, 2020
 

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
 

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