Category Archive: Children's Hospital of Philadelphia Research Institute

Aug 13 2019

How Do Specific Sets of Neurons Influence Autistic-like Features of CDKL5 Deficiency Disorder?

The findings:

Researchers studying CDKL5 deficiency disorder (CDD), a complex and severe neurodevelopmental condition caused by mutations in the CDKL5 gene, gained novel insights into CDD’s underlying mechanisms. Their findings suggest that disrupted early development of neural circuitry has downstream consequences, disturbing neurotransmitter pathways and resulting in cognitive problems and autistic-like behaviors.

Previous research by the scientific team demonstrated that loss of CDKL5, which provides instructions for making a synaptic protein essential for normal brain development and functions, in forebrain glutamatergic neurons is implicated in learning and memory deficits. Their new findings suggest that loss of CDKL5 in forebrain GABAergic neurons leads to autistic-like features in mouse models of CDD.

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Aug 9 2019

In the News: Advancing Gene Therapy, CSF Tests, Managing Vascular Anomalies, New CPCE Director

The cicadas may be “singing,” but the summer season isn’t over quite yet. In the midst of heat waves, drenching rainstorms, and vacation escapes, our investigators continue to advance scientific discovery. In this edition of In The News, Children’s Hospital of Philadelphia researchers report a more sensitive method of detecting genetic material delivered via adeno-associated viral vectors, while another group published findings that could help avoid unnecessary non-culture cerebrospinal fluid infection tests. Meanwhile, Petar Mamula, MD, looks into more effective management of a rare vascular anomaly, and Alex Fiks, MD, assumes a director role within the Research Institute. 

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Aug 7 2019

Meet Eight High School Students Spending Their Summer With Science

By Jillian Rose Lim

School might be out for the summer, but science is still in for eight high school students participating in a unique six-week program called the Children’s Hospital of Philadelphia Research Internship for Scholars and Emerging Scientists (CHOP-RISES). Offered by the Office of Academic Training and Outreach Programs, CHOP-RISES gives students typically underrepresented in science the opportunity to work in some of our most innovative research laboratories and explore a variety of careers in science and medicine. 

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Aug 5 2019

Off Campus: He’s All Ears — and Eyes

By Nancy McCann

Editor’s note: Welcome to our new blog series! “Off Campus” is where you’ll discover what our amazing Research Institute employees do for fun, recreation, and the good of their communities once they leave the city behind. 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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Jul 26 2019

In the News: Rheumatology Award, South Jersey Summer Institute, Rural Health, ASH Prize, Army Families

It will take more than a little heat and humidity to stop our researchers at Children’s Hospital of Philadelphia from making an impact in and around the community: In this edition of our biweekly news roundup, we cover a recent event that introduced South Jersey teachers to our innovative research, congratulate two scientists on new awards that recognize their contributions to rheumatology and hematology, and share how faculty members at PolicyLab are discussing the implications of their work in the realms of policy and public health. 

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Jul 19 2019

A Summer for the Books: Life as a CRISSP Student at the Research Institute

Editor’s note: The Children’s Hospital of Philadelphia Research Institute Summer Scholars Program (CRISSP) is a competitive and dynamic internship that provides undergraduate students with hands-on experience in academic research, exposure to various facets of a career in pediatric research and/or medicine, and direct mentoring by CHOP faculty. In this guest blog, Cindy Hong, a rising third-year student at University of the Sciences in Philadelphia, gives a glimpse into her experience as a 2019 CRISSP scholar embarking on the immersive 10-week internship — from learning new skills in biomedical and health informatics in the lab of Laura Almasy, PhD, to making new friends, to determining if research is a career she wants to pursue.

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Jul 12 2019

In The News: Self-Driving Cars; Mother-Infant Dyad; Families’ Health Insurance; One Drug, Two Bone Diseases; Proteomic Dataset; Cancer Patients Quit Tobacco

The Fourth of July fireworks may be over, but sparks are still sizzling (along with the weather) here at the Research Institute as we celebrate our researchers’ published work. Take a look at who’s been in the press lately. This week we’re covering the decision factors behind allowing children to ride alone in self-driving cars, commentary on improving perinatal care in the United States, and why private sector working families are turning to Medicaid and CHIP for health coverage. 

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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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Jun 28 2019

In the News: Driving and Autism, Epilepsy Learning System, Youth-onset Diabetes, Mitochondrial Research Award, MicroRNA and Obesity, Well-being Measures

Even as the lazy days of summer approach, our researchers are busy making news with innovations in their respective fields. In this edition of In The News, a multidisciplinary study lauds parental support as key for autistic adolescents who want to drive, Children’s Hospital of Philadelphia announces a pioneering partnership in the Epilepsy Learning Healthcare System, and the TODAY study shows youth-onset type 2 diabetes leads to later complications. 

For more summer reading, Dr. Douglas Wallace is honored for mitochondrial research; scientists find a correlation among gut microbiota, microRNA 181 (miR-181), and obesity; and a validated pediatric tool for self-reported outcomes becomes available for clinical use.

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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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