Category Archive: Children's Hospital of Philadelphia Research Institute

Feb 18 2019

From Sci-Fi to Real Life, Stefano Rivella, PhD, on the Verge of Discovery

Bundled up in winter clothes from head to toe, 7-year-old Eric rolls a snowball around the backyard with his older brother, building it into a sizeable snowman. Mom, watching from her perch at the kitchen window, can hear her boys laughing — until — Eric doubles over in acute chest pain, crying out for her. Rushing to his side, she wonders how many more of these excruciating episodes and trips to the hospital Eric can endure.

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Feb 8 2019

In the News: Newly Linked Epilepsy Genes, Pediatric Safety Research, Teen Intern Recruits for Research, CHOP Visits UAE, Trends in Opioid Prescription

This week, we highlight the results of innovation powered by collaboration, within Children’s Hospital of Philadelphia Research Institute and around the globe. A multicenter, international consortium revealed genes newly linked to epilepsy, while CHOP CEO Madeline Bell visited Dubai for an interchange of knowledge and technology at the largest medical conference in the world. Closer to home, the Children’s Hospitals’ Solutions for Patient Safety Network, comprised of 135 hospitals in the United States, published its findings on the most effective targets for pediatric patient safety research, and a high school intern helped researchers recruit participants for a teen driving study. Learn about the latest trends in pediatric opioid prescription, and get an update on the Delaney family, whose conjoined twin daughters were separated with painstaking care by a multidisciplinary team at CHOP.

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Feb 1 2019

Why Should We Automatically Reanalyze Genetics Test Results?

The findings:

The human genome contains approximately 20,000 genes, and exome analysis focuses on about 7,000 genes known in medical literature to be clinically associated with a disease. Currently, up to 70 percent of exome test reports are negative or inconclusive. But suppose at a later date a researcher discovers a gene that could be causative of the disease? 

Children’s Hospital of Philadelphia researchers led by Avni Santani, PhD, associate professor of Clinical Pathology, developed a useful tool for automated reanalysis that facilitates efficient reevaluation of nondiagnostic clinical exome sequencing (CES) samples using up-to-date literature published after the initial exome analysis was performed. They demonstrated this methodology enabled identification of novel diagnostic findings in almost 16 percent of previously nondiagnostic samples. 

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Jan 25 2019

In the News: PA Device Consortium, Suicide Awareness, Future Fertility, Pneumonia Antibiotics, CAR Hosts Family Fun Research Day

If you’re looking for a spark of inspiration during January’s long and sometimes dreary days, don’t miss this week’s roundup of headlines from in and around Children’s Hospital of Philadelphia Research Institute. Our scientists’ passionate work in the lab found a spotlight in the mainstream media as “TODAY” featured how our stem cell research can help today’s cancer survivors become tomorrow’s parents. Meanwhile, eye-opening findings from the Lifespan Brain Institute (LiBi) sparked a wider conversation about how pediatricians and parents can stay alert for suicidal thoughts in teens. In more news, a recent study highlighted the need for more antibiotic stewardship in non-children’s hospitals, while a successful device consortium based at CHOP officially became a statewide affair.

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Jan 21 2019

Building the Evidence Base for Treatment of Severe PARDS

Looking into the eyes of a distressed parent, you want to be able to tell them you’re providing interventions that are based on good evidence for the care of their child. When a gap in knowledge prevents that clinical confidence, Martha Curley, RN, PhD, FAAN, pediatric critical care nurse and research scientist, is there to help find answers.

“The main reason I completed a PhD in nursing science was so I could ask and answer questions relevant to the patient population I cared for as a critical care nurse,” said Dr. Curley, professor of nursing and Ruth M. Colket Endowed Chair in Pediatric Nursing, Children’s Hospital of Philadelphia, and professor of anesthesia and critical care medicine, Perelman School of Medicine at the University of Pennsylvania.

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Jan 16 2019

Super Sleuths to Unravel Perplexing Pediatric Cases in Undiagnosed Diseases Network

Dealing with a mystery illness that doesn’t appear to match any conditions described in medical textbooks can entangle families on a diagnostic odyssey for years and even decades. Dozens of examinations, a barrage of tests, multiple misdiagnoses, and trips in and out of hospitals can leave them exhausted and no closer to knowing what is wrong with their child.

Those struggling to find a diagnosis can now turn to a new team of super sleuths from Children’s Hospital of Philadelphia and the Hospital of the University of Pennsylvania who are ready to unravel these perplexing diseases, in both children and adults. The two institutions received $2.5 million in research grants from the National Institutes of Health as a newly designated Undiagnosed Diseases Network (UDN) site.

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Jan 11 2019

In the News: New Treatment Option for Ph+ ALL, Video Game for Autism and Co-occurring ADHD, Science of Pediatric Palliative Care, Frontier Programs Named

In this edition of In the News, learn about digital medicine and what it means for children with autism spectrum disorder and co-occurring attention deficit/hyperactivity disorder (ADHD). Read about a variation in care study, a recent FDA approved drug treatment for a specific childhood cancer, and why two Children’s Hospital of Philadelphia researchers are calling for improved pediatric palliative care measures. And lastly, join us in celebrating the addition of six new initiatives to CHOP’s Frontier Programs.  

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Jan 7 2019

Studying ‘The Beginning’ to Understand What Comes Later: Q&A With J. Christopher Edgar, PhD

One-month-old Connor only dimly perceives the world around him. Just two months later, when he sees his mother’s beaming face or hears his father’s hearty laugh, he smiles with recognition. And by the time Connor reaches his first birthday, he’s starting to put one foot in front of the other and verbally communicate with his parents. Just what accounts for these significant changes?

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Jan 4 2019

Updated Common Rule Modernizes Protections for Research Participants

Editor’s Note: After over five years of discussion from the advance notice of proposed rulemaking and two implementation delays, it appears that changes to the Common Rule regulations overseeing human subjects research (45 CFR 46) are finally set to go into effect Jan. 21. Heather Cathrall, MBE, CIP, assistant director of Institutional Review Board (IRB) Operations at Children’s Hospital of Philadelphia, explains what researchers need to know about the revised Common Rule. Protecting human participants in biomedical research is a top priority at CHOP Research Institute, and the IRB team is revising its electronic IRB system, standard operating procedures, templates, and webpage to comply with these new regulations. Also, the IRB is leading a series of trainings for CHOP investigators, study staff, IRB members, and IRB staff.

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Dec 31 2018

Our Most Read Stories of 2018 Celebrate Diversity, Data, and Discovery

As the new year approaches, we look back with gratitude for yet another year packed with scientific breakthroughs in children’s health. Continuing a remarkable run for personalized gene therapies, 2018 marked the European Commission’s approval of two gene therapies pioneered at Children’s Hospital of Philadelphia and the University of Pennsylvania, as patients in the European Union (EU) may now be treated with chimeric antigen receptor (CAR)-T cell therapy for aggressive forms of leukemia, and the very first gene therapy developed for inherited blindness.

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