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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Mar 8 2019

Intelligence Meets Inspiration: Celebrating Women in STEM at CHOP

Persevere, persist, and prioritize. These are some of the powerful words of wisdom that women in science at Children’s Hospital of Philadelphia would like to share with the next generation of female scientists. To celebrate Women’s History Month this year, we are continuing our tradition of highlighting the talented researchers at CHOP who work in the science, engineering, math, and technology (STEM) fields, which have historically been underrepresented by women. 

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Mar 6 2019

Patricia Brophy Chair Holds ‘Immeasurable’ Meaning for Yael Mossé, MD

By Jillian Rose Lim

Yael Mossé, MD, remembers meeting Patricia “Pat” Brophy, beloved nurse practitioner at Children’s Hospital of Philadelphia, nearly 23 years ago. Dr. Mossé was completing her pediatric residency, while Brophy was already a seasoned nurse caring for the sickest of children with cancer. Intrigued by the prospect of specializing in neuroblastoma, a cancer of the nervous system, Dr. Mossé reached out to Brophy to learn more about the disease that left children with limited treatment options. What began as a mentorship soon blossomed into a friendship spanning two memorable decades.

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Mar 4 2019

New Computational Method Sheds Light on How Genetic Variants Alter RNA Processing

By Sharlene George

A key moment occurs in any gripping novel that sets in motion the characters’ doom or fortune. In the context of gene regulation, RNA-binding proteins (RBPs) play a similar pivotal role determining ribonucleic acid molecules’ (RNAs’) fate by guiding post-transcriptional events. This process is essential to interpretation of genetic code and its function in protein synthesis, which are the building blocks of any organism.

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