Tag Archive: CHOP

Jul 10 2019

Off Campus: ‘It’s Been a Hard Day’s Night, and I’ve Been Working Like a Dog’

By Nancy McCann

Editor’s note: We’ve started a new occasional blog series! Do you ever wonder what our super-docs and super-staff do on the weekends, during their downtime? Well, our Research Communications team did, and we created “Off Campus” to discover what our amazing Research Institute employees do for fun, recreation, and the good of their communities. Get a glimpse into their lives once they take off their capes … umm, we mean lab coats and business shoes. And if you know someone in your department or lab with a fascinating hobby or interest, we’d like to hear about it!

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Jun 21 2019

Off Campus: Shall We Dance?

By Nancy McCann

Editor’s note: We’ve started a new occasional blog series! Do you ever wonder what our super-docs and super-staff do on the weekends, during their downtime? Well, our Research Communications team did, and we created “Off Campus” to discover what our amazing Research Institute employees do for fun, recreation, and the good of their communities. Get a glimpse into their lives once they take off their capes … umm, we mean lab coats and business shoes. And if you know someone in your department or lab with a fascinating hobby or interest, we’d like to hear about it

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Feb 22 2019

In the News: Sleep Problems and Autism, Opioid Overprescription, Food Pharmacy, Gun Violence Prevention, Proof-of-Concept Award, and Lung Cells in Fetal Development

By Nancy McCann

We start this edition of In the News with a look at the prevalence of sleep problems in young children with autism spectrum disorder, a study on opioid prescriptions for kids with broken elbows, and Children’s Hospital of Philadelphia’s grand opening of the Healthy Weight Food Pharmacy and the research behind it.

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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 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 24 2019

New Grant Awarded to Study Driving Among Autistic Teens

As teens transition to adulthood, being able to get around on their own is a big step toward independence, enabling opportunities for social activities, post-secondary education, and work.

But what about this rite of passage for adolescents on the autism spectrum? How does their experience differ from their peers? These are the types of questions Allison Curry, PhD, MPH, wants to answer with the help of a new grant to fund a groundbreaking project that has the potential to help change the lives of many teens and young adults with autism.

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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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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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