Tag Archive: genetics

Jun 18 2019

Novel Approaches to Data Analysis Lead to Discovery at SAGES

By Barbara Drosey

Recognizing the importance of providing context for the rapid advances in whole exome and genome sequencing, data collection, and biological information, Marcella Devoto, PhD, developed the Symposium on Advances in Genomics, Epidemiology, and Statistics (SAGES) with colleagues at the University of Pennsylvania, Princeton University, Johns Hopkins University, Columbia University, and the National Human Genome Research Institute to create a space for colleagues to address these analytical challenges.

“One of its major strengths is the span of research in the areas of genomics that SAGES covers, from statistical methods to clinical applications,” said Dr. Devoto, a researcher in the division of Human Genetics at CHOP and professor of Pediatric, Genetics, and Epidemiology at Penn.

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Apr 11 2019

2019 Distinguished Research Trainees Show Character and Creativity

Children’s Hospital of Philadelphia Research Institute recognizes the unique and remarkable trainees who have been nominated by their mentors across CHOP through the Distinguished Research Trainee Awards. This year, the Research Trainee Advisory Committee selected four scientists across different disciplines and divisions who are positioned to drive bigger breakthroughs in their fields. Learn more about these researchers’ achievements and accolades: 

Sarah Sheppard, MD, PhD, Pediatrics/Medical Genetics Resident

Mentor: Elizabeth Bhoj, MD, PhD, Assistant Professor of Genetics and Pediatrics

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Mar 1 2019

Uncovering the Unexpected: Q&A With Jean-Bernard Lubin, PhD, New Diversity Fellow

It’s been an exciting week on Cornerstone, as we’ve gotten to know the newest recipients of the Postdoctoral Fellowship for Academic Diversity and learn about the richness of experience they bring to our research community.

Closing our three-part Q&A series is Jean-Bernard Lubin, PhD, who discovered the perfect place to pursue his research interests in the microbiome and its effects throughout the lifespan. With the goal of directing the course of those effects with therapeutic interventions, Dr. Lubin brings his passion for bacterial genetics to CHOP.

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Feb 27 2019

Stronger Communities Through Research: Q&A With Phylicia Fitzpatrick Fleming, PhD, New Diversity Fellow

As part of a three-part Q&A series on Cornerstone, we’re introducing new members of the Children’s Hospital of Philadelphia research community. The Postdoctoral Fellowship for Academic Diversity supports our belief that innovation is enhanced when a diverse group of researchers from a variety of backgrounds, disciplines, and perspectives contribute to solutions.  In this series, we’re learning more about our newest Diversity Fellows through their own voices, taking us on a journey from where their research paths began to their favorite pastimes.

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Feb 25 2019

Merging Mechanics and Human Movement: Q&A With Ozell Sanders, PhD, New Diversity Fellow

Breakthroughs occur when great minds from a variety of backgrounds join together in the spirit of innovation. At Children’s Hospital of Philadelphia, we see diversity as a key driver of achievement and crucial when the accomplishments at stake have the potential to change, and even save, children’s lives. Among the ways CHOP demonstrates its commitment to diversity in research is the Postdoctoral Fellowship for Academic Diversity. Three new diversity fellows recently joined the CHOP research community, bringing the wealth of their unique education, training, and life experiences. In a three-part Q&A series, we’ll learn more about these scholars, their areas of expertise and interest, and even a little bit about how they spend their hard-earned downtime.

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Aug 31 2018

CHOP Leads Big Data Collaboration to Uncover Pathways Between Cancer and Birth Defects

When most of us think about cancer, a number of factors — from smoking, to sun exposure, to specific organs where a disorder develops — might jump to mind. But for Adam Resnick, PhD, co-founder of the Center for Data Driven Discovery and Biomedicine (D3B) at CHOP, in order to unravel the inextricable link between childhood cancer and other rare conditions, we must visualize pediatric cancer as a process.

As a single-cell zygote proliferates into a 37 trillion-cell being, something happens in the course of its development — a dysfunction, a deviance, a DNA-driven decision — that underpins not just the development of life-changing birth defects, but a potential vulnerability to childhood cancer as well.

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Jul 20 2018

Charting a Course for Children With Kidney Disease

Susan Furth, MD, PhD

Children are not just little adults”: It’s a phrase heard often in pediatric medicine, whether you’re a parent, doctor, or researcher. With their dynamically developing bodies, unique psychology and biolochronic kidney disease (CKD) is just one example of a condition whose causes, consequences, and outcomes differ distinctly from adults. And at Children’s Hospital of Philadelphia, clinician-researchers in our Division of Nephrology are constantly learning more about the important differences between pediatric and adult CKD.,>

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Jun 7 2018

Bring on the Noise: Genomics Experts Think Through Big Data at SAGES

The Symposium on Advances in Genomics, Epidemiology and Statistics (SAGES) has a winning formula for success: Bring together an interdisciplinary group of scientists who are all working toward the same goal of understanding the genetic basis of human disorders. Close to 200 SAGES attendees gathered June 1 at the Smilow Center for Translational Research for a dynamic opportunity to explore a wealth of ideas and make connections with colleagues from diverse areas of expertise.

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Feb 21 2018

Different Walks of Life: Q&A With Annabel Torres, PhD, New Diversity Fellow

Over the last week, we have gotten to know the newest scholars in the Postdoctoral Fellowship for Academic Diversity at Children’s Hospital of Philadelphia, a program designed to strengthen the Research Institute’s diverse population of postdoctoral investigators. Every year, new researchers join the program and contribute their unique perspectives to various fields of pediatric science, from genomics to neurobiology.

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Oct 25 2016

Mentorship in Medicine, Zebras, and Holsteins: Q&A with Elaine Zackai

mentorshipA common adage in medical training goes, “When you hear hoofbeats, think horses (not zebras).” For most doctors in conventional practice, that means that exotic explanations are rarely right. The most prosaic diagnosis for a patient’s symptoms is usually the correct one.

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