Apr 5 2019

In the News: Genes Causing Osteoporosis, Residents’ Longer Work Shifts, Pediatric Spinal Deformity, Ventilation Strategy for Preterm Infants, Pediatric Cell Atlas

As spring slowly arrives here in Philadelphia, take a deep breath of fresh air and catch up on our research that’s been making publishing news. This week we’re covering genes that cause osteoporosis, the effects of longer work shifts for first-year residents, and the project to map every cell in a child’s body. You’ll also learn about respiratory support in preterm infants and research results that Children’s Hospital of Philadelphia investigators published in the Public Library of Science (PLOS) One.

Risk Genes for Osteoporosis May Lead to Future Treatments

Scientists have harnessed powerful data analysis tools and three-dimensional studies of genomic geography to implicate new risk genes for osteoporosis, the chronic bone-weakening condition that affects millions of people. Knowing the causative genes may later open the door to more effective treatments.

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Apr 3 2019

Collaborators Uncover Genetic Basis of Very Early Onset Inflammatory Bowel Disease

By Barbara Drosey

It’s easy to see how Marcella Devoto, PhD, and Judith Kelsen, MD, work so well together. Their work is imperative, but they also are quick to laugh while falling in and out of side conversations about their research in the sort of shorthand longtime collaborators enjoy.

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Mar 29 2019

Collaborating for Pediatric Kidney Disease Clinical Research

By Jillian Rose Lim

Our kidneys work hard to keep us healthy, from regulating fluids, to flushing out waste, to supporting strong, supple bones. Protecting these key functions is especially critical for children, who rely on the all-important organ to keep their bodies growing and nutrients flowing. Thankfully, chronic kidney disease (CKD), in which kidneys sustain progressive and permanent damage over time, is rare in children. But this rarity also means researchers and clinicians need to work harder to gather enough patients and data to mount effective clinical trials and improve outcomes.

And though pediatric CKD is uncommon, the condition can be devastating, leaving a long-term impact on a child’s adult life. The overall life expectancy of children with kidney disease is approximately 40 years less than the average population.

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Mar 26 2019

How Does a New Computational Method Transform Public Big Data Into Knowledge of Transcript Splicing?

By Sharlene George

The findings:

A new computational framework called deep-learning augmented RNA-seq analysis of transcript splicing (DARTS) uses deep-learning based predictions to add dimension to the wealth of information available in public RNA sequencing (RNA-seq) big data sets. DARTS allows researchers to gain new insights into RNA and protein complexity, particularly for genes with low expression.

Who conducted the study:

A team from the Center for Computational and Genomic Medicine at Children’s Hospital of Philadelphia conducted the study including Yi Xing, PhD, who is the Center’s director, and first authors Zijun Zhang and Zhicheng Pan, who are PhD students.

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Mar 25 2019

Greater Access, Greater Information, Greater Responsibility: Q&A With Dianna Reuter, JD

Arcus is a unique data environment that will one day host many research data sets from Children’s Hospital of Philadelphia, all of which will have their own formats and regulatory requirements. As a research data privacy analyst for Arcus, Dianna Reuter, JD’s, goal is to build a house where all of those data sets — whether they’re related to human subjects research, or genomic studies, or come from abroad and are subject to other countries’ privacy laws — can have a home that is accessible but stays secure to protect privacy.

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Mar 22 2019

In the News: Mitochondrial Gene Variance, Killing Cancer Cells, NICU Stress Effects, Visually Impaired Driver Safety

In this week’s news roundup, there’s a lot to be proud of as our researchers make impactful discoveries, such as new-found variability in a mitochondrial disease-causing gene and encouraging findings about an antibody-drug conjugate that targets a surface protein expressed in childhood neuroblastomas, effectively killing cancer cells. Wanjiku Njoroge, MD, and colleagues followed mothers of very preterm infants to determine stress in the NICU and its effects five years later, and Allison Curry, PhD, MPH, is changing perceptions about visually impaired drivers.

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Mar 21 2019

Digging Deep Into Decisions to Treat Short Stature With Human Growth Hormone

By Nancy McCann

Tall people are self-confident, successful, and have the world at their feet, according to our society’s biases and assumptions. This perception tends to elevate the pressure for parents, children, and clinicians to try human growth hormone (hGH) for treating idiopathic short stature (ISS) — children with severe short stature without an identifiable cause. But how short is severe enough to warrant hGH treatment, which can involve years of daily injections and exposure to potential side effects, at a cost of about $30,000 per patient per year?

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Mar 15 2019

Life Sciences PA Award Recognizes Food Allergy Frontier Program’s Patient Impact

By Jillian Rose Lim

A new award honors the remarkable ways in which the Food Allergy Frontier Program at Children’s Hospital of Philadelphia is changing outcomes for patients and families. This week, Life Sciences Pennsylvania recognized Jonathan Spergel, MD, PhD, and his team with a Patient Impact Award for their work in eosinophilic esophagitis (EoE) research and treatment. The organization, which fosters the growth and success of life sciences in Pennsylvania, presented Dr. Spergel with the award at their 2019 Annual Dinner March 14 at the Pennsylvania Convention Center.

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Mar 14 2019

CHOP Ranked Nation’s Top Pediatrics Department for 2020

For the seventh year in a row, U.S.News & World Report has ranked the Department of Pediatrics at Children’s Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania as the number one pediatrics department in the United States. 

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Mar 11 2019

In the News: National Clinical Research Award, Vitamin D and Obesity, Modern Healthcare Women Leaders, Mitochondrial Disorder Drug, Predicting Sepsis

Last week marked International Women’s Day (March 8), and while we recognize the remarkable women in science and healthcare at the Research Institute every day of the year, it seems especially fitting that this news roundup features some of those role models as they receive accolades and awards. Hematology researcher, Lindsey George, MD, was honored for her breakthrough work in developing a gene therapy for hemophilia B, while our CEO and President, Madeline Bell, ranked on the Top 25 Women Leaders list by Modern Healthcare. Meanwhile, in other news, researchers published findings on obesity and vitamin D, the use of machine learning for early sepsis detection, and a promising drug to treat some mitochondrial disorders.

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