CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

A multidisciplinary team of researchers led by Children's Hospital of Philadelphia (CHOP) has discovered several genetic markers associated with bone mineral accrual, which could ultimately help identify causes of eventual osteoporosis earlier in life through genetic testing. The findings, which were made possible by following a group of children over several years, were published online by the journal Genome Biology..
Article by: Science Daily; Jan 06, 2020

Researchers in the United States have conducted genetic correlation studies revealing novel traits associated with the development of severe coronavirus disease 2019 (COVID-19). The team – from the Children’s Hospital of Philadelphia and the University of Pennsylvania – also found that opioid use and panic attacks appeared to be correlated with severe COVID 19 and hospitalization.
Article by: News Medical; Dec 23, 2020

Researchers at Children's Hospital of Philadelphia (CHOP) have resolved a severe lymphatic disorder in a girl with Noonan Syndrome that had led to upper gastrointestinal bleeding, fluid collection around the lungs, and numerous surgeries that had been unable to resolve her symptoms.
Article by: EurekAlert; Nov 20, 2020

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:; 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