Category Archive: Center for Applied Genomics

May 4 2018

Pediatric Academic Societies Meeting Packed With Discovery and Discussion

For many of our researchers, the annual Pediatric Academic Societies (PAS) Meeting is more than just another conference or convention: It’s an exciting and educational event filled with discovery and discussion about the myriad ways we can improve children’s health. This year, experts from Children’s Hospital of Philadelphia will convene in Toronto from May 5 to 8 for four days of networking, presentations, poster sessions, and awards. They’ll represent a range of pediatric fields — from behavioral health to bone health, injury research to emergency medicine, neonatology to autism spectrum disorder (ASD), and almost everything in between.

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Apr 18 2018

Center for Autism Research a Proving Ground for Novel Approaches

Editor’s Note: Each year, 10,000 patients diagnosed with autism spectrum disorder (ASD) visit a wide range of clinical programs at Children’s Hospital of Philadelphia — including developmental pediatrics, child and adolescent psychiatry, neurology, psychology, speech and language therapy, clinical genetics, general pediatrics, and more. With this enormous patient base and broad sets of expertise across specialties, the Center for Autism Research (CAR) at CHOP offers a tremendous opportunity to conduct rigorous research with its ultimate aim being to improve care, quality of life and long-term outcomes for individuals with ASD.

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Mar 21 2018

Lifespan Brain Institute Symposium Digs Into Roots of Mental Illness

Leaders of the Lifespan Brain Institute (LiBI) brought together experts in child and adult psychiatry, and basic and translational science, to delve into the origins of mental illness, during the Institute’s first symposium, “Pathological Antecedents to Neuropsychiatric Disorders.” Throughout the day, 200 attendees learned about how the typical trajectory of brain development and function is derailed in psychiatric disorders at various points throughout life — perhaps as early as in the womb.

LiBI is uniquely positioned as a broad collaboration between Children’s Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania that supports research across the fetal-adult continuum, which is a pillar of CHOP Research Institute’s strategic plan.

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Mar 15 2018

Four Women in Science: What Inspires Them to Make Breakthroughs

In the halls and history of Children’s Hospital of Philadelphia and its Research Institute, you don’t have to search far to find role models who thrive in science fields that have been, historically, underrepresented by women.

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Mar 6 2018

Is an Uncommon Genetic Mutation Linked to Vitamin D-dependent Rickets?

The Findings:

Researchers identified a genetic mutation in CYP3A4 that is linked to vitamin D-dependent rickets (VDDR), a childhood disorder associated with impaired growth and skeletal mineralization. Scientists already knew about two other genetic forms of VDDR, but this third kind is caused by a gain-in-function mutation — a random genetic change that confers a new function on a gene — that leads to accelerated inactivation of vitamin D metabolites. This is a new insight into vitamin D metabolism.

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Feb 28 2018

Better Biobanking a Best Bet for Rare Disease Research

Editor’s Note: Families facing a rare disease diagnosis often do not know where to turn first in their search for the most advanced treatments and potentially a cure for their children. Only 5 percent of rare diseases have a treatment approved by the Food and Drug Administration, according to the National Organization for Rare Disorders. This is due in part to the lack of high quality biospecimens for research.

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Feb 26 2018

John Maris, MD, Receives National Cancer Institute Outstanding Investigator Award

Long before he entered medical school, John M. Maris, MD, pediatric oncologist and the recent recipient of the National Cancer Institute’s Outstanding Investigator Award, became captivated by the mysteries of neuroblastoma. A cancer of the peripheral (not brain) nervous system, neuroblastoma accounts for 7 percent of all childhood cancers and 15 percent of all childhood cancer deaths.

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Feb 13 2018

Making Science Stronger: Q&A with Michael Gonzalez, PhD, New Diversity Fellow

At Children’s Hospital of Philadelphia, we believe diversity drives breakthroughs. Our investigators come from a multitude of academic backgrounds and life experiences to form a rich research community that thrives on collaboration. In 2016, CHOP launched the Postdoctoral Research Fellowship for Academic Diversity in partnership with the University of Pennsylvania to enhance the recruitment of postdoctoral fellows from diverse populations. This year, three new CHOP diversity fellows began the program, each contributing their own unique experiences to various fields of pediatric study. In this Cornerstone Q&A series, we asked the new fellows what diversity in research means to them and what they hope to achieve while at CHOP.

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Oct 6 2017

Neuroblastoma Gene Variants, Center for GI Motility Expansion, Improving Autism Diagnosis, Fontan Procedure Follow-Ups

CHOP Research In the NewsThis week, new research findings at Children’s Hospital of Philadelphia are propelling the way we think about autism, single ventricle survivors, and neuroblastoma forward, as our investigators continued to push the boundaries of what we know.

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Aug 23 2017

Mitochondrial Gene Defects Associated With Autism Traced Back to Ancient Times

Differences in mitochondrial function are a major factor in understanding the origins of autism spectrum disorders (ASD), according to a new study led by Douglas Wallace, PhD, director of the Center for Mitochondrial and Epigenomic Medicine at Children’s Hospital of Philadelphia, that points way back to genetic vulnerabilities accumulated during ancient human migrations.

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