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RNA Editing and Epilepsy, HIV Testing, Dr. St. Geme Leadership Award

Published on April 10, 2020 in Cornerstone Blog · Last updated 4 months ago


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In the News, April 10, 2020


By Emily Shafer

Highlights in this week’s In the News include gene variants linked to epilepsy, and missed opportunities for HIV testing in adolescents. In addition, join us in celebrating grant winners announced by the Center for Human Phenomic Science, and Physician-in-Chief Joseph W. St. Geme, who earned a prestigious leadership award.

Variants in RNA Editing Associated With Epilepsy

Researchers from the Epilepsy Neurogenetics Initiative (ENGIN) at Children’s Hospital of Philadelphia found that RNA editing is critical in brain development, and variants in the RNA editing enzyme, ADAR2, are linked to epilepsy, intellectual disability, and microcephaly in certain patients. The study appeared in American Journal of Human Genetics.

Previously, a mouse model showed that impaired editing by ADAR2 can lead to early-onset epilepsy and premature death. In this study, the researchers studied four unrelated individuals with microcephaly, intellectual disability, and epilepsy. They found multiple variants in the ADARB1 gene, which encodes for the ADAR2 enzyme. These variants were associated with decreased functioning of ADAR2, which leads to epilepsy, due to overactive AMPA receptors.

“This study is important because it identifies ADARB1 as a new gene that causes early-onset, severe epilepsy in humans,” said Mark Fitzgerald, MD, PhD, an epileptologist in the Division of Neurology at CHOP and a neurogeneticist in ENGIN. “Because ADARB1 dysfunction leads to overactive AMPA receptors, we are hopeful that AMPA receptor-blocking medications like perampanel might offer a precision-medicine therapy for treating the epilepsy in these patients.”

Read more about the study in the CHOP press release.

Researchers Identify Missed Opportunities for HIV Testing in Teens

Researchers from the PolicyLab at CHOP found missed opportunities for HIV testing among teens who present with a new sexually transmitted infection (STI) in primary care and family planning clinics. The study team published their findings in Pediatrics.

Danielle Petsis, MPH, clinical research coordinator at the PolicyLab and the Craig Dalsimer Division of Adolescent Medicine at CHOP, and colleagues conducted a retrospective study of STI episodes in adolescents aged 13 to 24 years, and evaluated factors associated with HIV testing in these patients. They found that only half of the 1,816 STI episodes completed an HIV test. Factors associated with not completing the test included female sex, previous STIs, uninsured status, and confidential health encounters. In addition, patients enrolled in primary care at the clinics were 50 percent more likely to undergo HIV testing.

“It could be that teens who have developed a relationship with providers or feel more comfortable in a clinic setting receive better sexual healthcare than those who are walk-in patients,” Petsis wrote in a PolicyLab blog post. “These findings highlight the importance of doctor-patient relationships within primary care and illuminate the benefits of connecting adolescents seeking sexual health to primary care.”

Physician-in-Chief Joseph W. St. Geme Wins Leadership Award

Joseph W. St. Geme, MD, Chair of the Department of Pediatrics and Physician-in-Chief at CHOP, is the 2020 recipient of the Joseph W. St. Geme Jr. Leadership Award. The Federation of Pediatric Organizations (FOPO) bestows the award, which is named after Dr. St. Geme’s father, who was a renowned pediatrician. Dr. St. Geme will receive the award at the 2021 meeting of the Pediatric Academic Societies, in Vancouver, BC.

The FOPO established the award in 1988 to recognized pediatricians who are role models as clinicians, educators, and/or investigators.

“I am deeply honored to receive this award,” Dr. St. Geme said. “My dad inspired me to pursue a career in pediatrics. He died when I was a senior resident, but he has remained a role model for me and has had a profound influence on my career.”

Dr. St. Geme has held leadership roles within many professional organizations and has received mentoring and teaching awards from students, residents, and graduate students. He is also an award-winning scientist who studies the molecular and cellular determinants of bacterial pathogenicity, focusing on Haemophilus influenza and Kingella kingae.

Read more about Dr. St. Geme’s award in the CHOP press release.

CHPS Announces Junior Investigator Preliminary/Feasibility Grant Program Awards

The Center for Human Phenomic Science (CHPS) at CHOP and the University of Pennsylvania announced the recipients of the 2020 Junior Investigator Preliminary/Feasibility Grant Program (JIPGP) awards. The JIPGP award provides grant support and reduced cost access to the infrastructure and support services of the CHPS to promising junior investigators. The awardees are:

  • “Childhood neurodevelopmental and immune phenotype in PTEN hamartoma tumor syndrome.” – Suzanne MacFarland, MD (CHOP)
  • “Improving understanding of neuropathophysiologic mechanisms of disease in hyperinsulinemic hypoglycemia through advanced neuroimaging techniques.” – Elizabeth Rosenfeld, MD (CHOP)
  • “Effects of serotonin and dopamine on persistence for delayed rewards.” – Karolina Lempert, PhD (PENN)
  • Deep phenotyping of the acute effects of exogenous ketone therapy in heart failure with preserved ejection fraction: an active-controlled, crossover trial.” – Senthil Selvaraj, MD (PENN)
  • “Neurocognitive functioning in pediatric atopic dermatitis.” – Joy Wan, MD (PENN)

PolicyLab Publishes Briefs Discussing Universal Health Coverage for Children

Researchers in the PolicyLab at CHOP published an Evidence to Action brief and a complementary policy brief discussing pathways to achieve universal health coverage for children. In the briefs, the authors present options for policymakers to consider to achieve affordable, comprehensive health coverage for children. Some options include universal coverage proposals and modifications of existing programs.

“Despite the well-documented benefits of and broad bipartisan support for children’s coverage, the U.S. has seen rising numbers of uninsured children since 2017, with nearly half a million children losing insurance coverage,” PolicyLab wrote in a blog post. “Increasing premiums and rising out-of-pocket costs in the private insurance market, as well as barriers to enrollment and threats to the future availability of public insurance, are some of the trends signaling a crisis.”

The authors include David Rubin, MD, MSCE, director of PolicyLab; Rebecka Rosenquist, MSc, health policy director of PolicyLab; Megan McCarthy-Alfano, project manager at the Leonard Davis Institute of Health Economics at the University of Pennsylvania; Doug Strane, MPH, health policy research program manager at PolicyLab; and Ahaviah Glaser, JD, senior policy advisor to PolicyLab and director of health policy and strategic initiatives for government affairs at CHOP.


Catch up on our headlines from our March 27 In the News:

  • Video Confirmation Critical for Processing Head Impact Sensor Data
  • A Big Workout to Help Little Hearts
  • Adam Resnick Educates Listeners of Childhood Cancer Talk Radio Show
  • Researchers Develop Autism-specific Lifespan Quality of Life Assessment Tool
  • More Than Half Mass Shootings Occur Far from Pediatric Trauma Centers
  • Improved Training Needed for Pediatric Palliative and End-of-Life Care

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