Tag Archive: Hakon Hakonarson

Sep 6 2019

In the News: Cancer Drug Approval, Chief of Infectious Diseases, Genetics and Obesity, Police Encounters and Autism, Rare Disease Q&A, Stress Resilience

It’s time to say goodbye to summer and settle into days with a little more structure (and a little less humidity). It’s also Childhood Cancer Awareness month, a special time to raise awareness for pediatric cancer research and recognize the researchers who work toward discovering causes and developing treatments. In this week’s research news roundup, learn how scientists in our Cancer Center contributed to the approval of a new cancer drug to treat solid and brain tumors, join us in welcoming our new Chief of Infectious Diseases, learn about new discoveries into stress resilience, and more.

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Jul 3 2019

Genetic Discovery Leads to New Treatment for Defective Lymphatic Circulation

The findings:

A study team at Children’s Hospital of Philadelphia discovered a gain-of-function mutation in the ARAF gene causing a life-threatening rare disease known as central conducting lymphatic anomaly that disrupts circulation of lymphatic fluid. They also identified an existing drug that acts on biological pathways affected by ARAF. The experimental treatment had dramatic results for a young boy with the disease who had worsening respiratory and swelling problems. The drug blocked the signals causing the dysregulated growth and abnormal lymphatic flow, prompting his lymphatic channels to reshape themselves into more normal anatomy and function.

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May 29 2019

2019 Scientific Symposium Sparks Discussions on Big Data

By Jillian Rose Lim, Barbara Drosey, Sharlene George, and Nancy McCann

Researchers exchanged big ideas about big data at the 2019 Scientific Symposium, an event that brought together the bright minds of our Children’s Hospital of Philadelphia research community. A lineup of thought-provoking speakers from CHOP and the University of Pennsylvania shared presentations corresponding with the symposium’s themes, “Big Data” and “Today’s Discoveries and Tomorrow’s Possibilities.” 

“The goal [of this symposium] is to highlight the tremendous advances by CHOP investigators in the booming fields of computational biology, data science, and genomics,” said Yi Xing, PhD, chair of the event and director of the Center for Computational and Genomic Medicine at CHOP. 

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May 20 2019

Do Mothers’ and Babies’ Genes Influence Birth Weight?

The Findings:

An international research team conducted a large study and learned that genetic factors from both mothers and babies interact to influence birth weight. The researchers identified 190 genetic signals from variants affecting birth weight, of which 129 signals were new discoveries. The researchers also demonstrated that some of the mother’s genes were not inherited by the baby, but they did influence the baby’s uterine environment during pregnancy.

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Feb 8 2019

In the News: Newly Linked Epilepsy Genes, Pediatric Safety Research, Teen Intern Recruits for Research, CHOP Visits UAE, Trends in Opioid Prescription

This week, we highlight the results of innovation powered by collaboration, within Children’s Hospital of Philadelphia Research Institute and around the globe. A multicenter, international consortium revealed genes newly linked to epilepsy, while CHOP CEO Madeline Bell visited Dubai for an interchange of knowledge and technology at the largest medical conference in the world. Closer to home, the Children’s Hospitals’ Solutions for Patient Safety Network, comprised of 135 hospitals in the United States, published its findings on the most effective targets for pediatric patient safety research, and a high school intern helped researchers recruit participants for a teen driving study. Learn about the latest trends in pediatric opioid prescription, and get an update on the Delaney family, whose conjoined twin daughters were separated with painstaking care by a multidisciplinary team at CHOP.

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Jan 11 2019

In the News: New Treatment Option for Ph+ ALL, Video Game for Autism and Co-occurring ADHD, Science of Pediatric Palliative Care, Frontier Programs Named

In this edition of In the News, learn about digital medicine and what it means for children with autism spectrum disorder and co-occurring attention deficit/hyperactivity disorder (ADHD). Read about a variation in care study, a recent FDA approved drug treatment for a specific childhood cancer, and why two Children’s Hospital of Philadelphia researchers are calling for improved pediatric palliative care measures. And lastly, join us in celebrating the addition of six new initiatives to CHOP’s Frontier Programs.  

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Dec 7 2018

Center for Autism Research Reaches a Decade of Scientific Insights, Leadership

The Center for Autism Research at Children’s Hospital of Philadelphia is celebrating a decade of conducting autism research to understand the causes of autism spectrum disorder, develop effective therapies, and train the next generation of master clinicians and scientists in state-of-the-science best practices for autism screening, diagnosis, and treatment.

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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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