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 14 2019

Why is Targeting GRP75 a Novel Strategy for Treatment of Friedreich Ataxia?

The findings:

Friedreich ataxia (FRDA) is a rare, progressive autosomal recessive neurodegenerative disease characterized by progressive gait and limb ataxia; cerebellar, pyramidal, and dorsal column involvement; visual defects; scoliosis; and cardiomyopathy. FRDA is caused by transcriptional silencing of the frataxin gene and consequential deficiency of frataxin, a mitochondrial protein crucial for iron–sulphur cluster biogenesis and adenosine triphosphate (ATP) production. ATP stores and transports chemical energy within cells. Currently, no therapy is available to slow down the progression of FRDA.

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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 9 2019

New Cancer Moonshot Grant Catalyzes Research for Immunotherapy in Childhood Cancer

Creating the opportunity for every child with cancer to enjoy a healthy life beyond their cancer experience is the dream for pediatric oncology researchers. New grants awarded by the National Cancer Institute Moonshot Initiative through a multi-institutional, collaborative group — the  Pediatric Immunotherapy Discovery and Development Network (PI-DDN) —  aim to bring this dream closer to reality by fundamentally changing our understanding of how to harness the power of the immune system to treat childhood cancers.

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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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Dec 28 2018

In the News: Study Tops Most-Read List, the Migratory T Cell Response, Mossé Named Endowed Chair, ‘Healthier Together’ Launches, Supporting Survivors

Leading the charge to develop new, targeted approaches to treat disease, Children’s Hospital of Philadelphia Research Institute investigators have uncovered more of the mechanistic underpinnings of the migratory T cell response, and CHOP announced the inaugural Patricia Brophy Endowed Chair in Neuroblastoma Research to advance innovation into less toxic treatment options for specific cancers. Out in the community, CHOP has teamed up with the Philadelphia Housing Development Corporation for the pilot program of its Healthier Together initiative, and researchers are learning how best to help survivors of violence after they are discharged from the hospital.

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Dec 26 2018

New Bioengineering Lab Paves Way for Pediatric Airway Discoveries

Our basic function as human beings is our ability to communicate, yet we often take for granted how a baby babbles, a child chatters, or a teen raps. A fragile interplay along the vocal tract — from lungs, through the larynx and the vocal cords, to the lips — allows us to speak, swallow, and breathe. When an airway insult or injury interferes with these passages and processes, experts at the Center for Pediatric Airway Disorders combine extraordinary clinical care and innovative translational research to give children the best possible outcomes.

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Dec 21 2018

New Grant Awarded to Study Mechanisms of Clotting

Thrombosis — the abnormal, life-threatening blood clots that form in the artery or vein — does not discriminate. Young. Old. Rich. Poor. Gender. Race. Ethnicity. We’re all in this together. We’re all susceptible. Some more so than others.

Up to 900,000 people in the U.S. are affected by blood clots each year; 100,000 will die, which is greater than the total number of people who lose their lives each year to AIDS, breast cancer, and motor vehicle crashes combined.

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