Tag Archive: Hakon Hakonarson

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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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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Oct 7 2016

CHOP Research In the News: Ear Infection Genetics, Childhood Cancer Heredity, Vaccine Anniversary

CHOP Research In the NewsWelcome back to another weekly roundup of research news from the Children’s Hospital of Philadelphia! Exciting and important pediatric research spans everything from conditions that are common and treatable, such as ear infections, to others more rare and deadly, such as cancer.

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Sep 16 2016

CHOP Research In the News: Precision Health, Passenger Distraction, Stand Up to Cancer Telecast

CHOP Research In the NewsMany scientific endeavors take place quietly behind laboratory walls, but this week’s In the News items are worth shouting about.

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Apr 26 2016

Hakon Hakonarson Honored for Excellence in Research Mentoring

Hakon HakonarsonThe Research Trainee Advisory Committee at The Children’s Hospital of Philadelphia Research Institute has named Hakon Hakonarson, MD, PhD, the inaugural winner of its Award for Excellence in Mentoring Research Trainees. The award recognizes faculty who effectively guide and monitor advanced training and professional development of research trainees at CHOP.

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Apr 5 2016

In Bench to Bedside: Finding Research Success in Setbacks

Bench to BedsideA new issue of Bench to Bedside, the monthly newsmagazine from The Children’s Hospital of Philadelphia Research Institute, is now available! This month’s issue includes several stories that show that, sometimes, it takes some setbacks to pave a new and unexpected path to success in research.

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