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Firearms Brief, Pandemic Births, Friedreich's Ataxia Center Funding, 'Voices on Diversity'

Published on December 18, 2020 in Cornerstone Blog · Last updated 5 months 2 weeks ago


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shafere1 [at] (By Emily Shafer)

In this week's research news roundup, learn about a brief written by members of PolicyLab and the Center for Violence Prevention on recommendations to protect kids from firearms. Get the latest research on preterm births and stillbirths during the COVID-19 pandemic, and findings that link mutations in a protein to neurodevelopment issues. Find out about the new donation for the Friedreich's Ataxia Center of Excellence, and meet two postdoctoral researchers in the spotlight for diversity recognition.

New Brief Includes Recommendations to Protect Children From Firearms

Researchers from PolicyLab and the Center for Violence Prevention at CHOP authored an Evidence to Action brief in which they provide recommendations for public health approaches to protect children from the dangers of firearms. The brief, titled "Preventing Unintentional Firearm Injury & Death Among Youth: Examining the Evidence," takes a look at the existing evidence on gun-related policies and interventions. It makes recommendations including implementing Child Access Prevention laws, building out a comprehensive firearm-focused research agenda, and promoting safe gun storage practices. Read the brief here.

"As we work to fully understand the impact firearms in the home and community have on youth, we've identified evidence-based policies that warrant immediate action to address shortcomings in a system that isn't adequately protecting our nation's children," said Rebecka Rosenquist, MSc, health policy director at PolicyLab, and one of the authors of the brief.

Other authors include Polina Krass, MD, attending physician at CHOP; Laura Cavello, senior communications associate at PolicyLab; Julia Sabrick, research assistant at the Center for Violence Prevention; Meredith Matone, DrPH, MHS, scientific director at PolicyLab; and Joel Fein, MD, MPH, co-director of the Center for Violence Prevention.

No Changes in Preterm Births or Stillbirths Seen During COVID-19 Pandemic

A new study conducted by researchers at CHOP and the University of Pennsylvania found no changes in preterm births or stillbirths at two Philadelphia hospitals in the first four months of the COVID-19 pandemic. The findings appeared in JAMA.

The researchers used data from the GeoBirth cohort, which includes more than 100,000 births at two Penn Medicine hospitals since 2008. They analyzed 2,992 live births from March through June 2020, and compared those births to 5,875 live births over the same four-month period in 2018 and 2019. The data did not show any significant changes in preterm or stillbirth rates during the pandemic.

"Preterm birth is highly complex, with a diverse set of presentations and unknown causes," said Heather H. Burris, MD, MPH, an attending physician in CHOP's Division of Neonatology and a senior author of the study.

Read more about the study in a Penn press release.

Friedreich's Ataxia Center of Excellence Awarded $1.275 million

The Friedreich's Ataxia Research Alliance, the Hamilton and Finneran families, and the CureFA Foundation awarded the Friedreich's Ataxia Center of Excellence at CHOP $1.275 million to aid in developing therapies to improve quality of life for individuals with Friedreich's ataxia. Friedreich's ataxia (FA) is a neurodegenerative condition that affects about one in 50,000 individuals worldwide.

"As part of the Friedreich's Ataxia Center of Excellence and the largest Friedreich's ataxia clinical program in the world, this generous grant enables us to continue important research efforts," said David Lynch, MD, PhD, co-director of the Friedreich's Ataxia Program at CHOP. "We are truly thankful for donors like FARA, the Hamilton and Finneran families, and the CureFA Foundation. We could not develop pioneering treatments and provide high-quality, family-centered care without their support and generosity."

Learn more about the FA Center of Excellence and about the new funding in the CHOP press release.

Mutations in Key Protein Linked to Neurodevelopmental Issues

CHOP researchers showed that mutated variants of a histone involved in supporting chromosomes lead to several issues, including developmental delays, epilepsy, and congenital abnormalities. The findings, which appeared in Science Advances, may provide a new target for therapeutic intervention.

The study team analyzed 46 patients with 37 different germline mutations of the H3.3 histone. The patients all had neurologic dysfunction and congenital anomalies. Using molecular modeling, they found that all 37 variants showed disruptions in interactions with DNA, other histones, or histone chaperone properties. The effect of the germline mutations was distinct from the somatic mutations.

"By analyzing these variants, we identified a novel genetic syndrome associated with a variety of neurological impacts, including neurodegeneration," said Elizabeth Bhoj, MD, PhD, attending physician with the Division of Human Genetics at CHOP and senior author of the study. "With more work, we may be able to develop targeted therapies for patients affected by these mutations."

Read more about the study in the CHOP press release.

CHOP Postdocs Featured in 'Voices on Diversity' by Cell Press

Two postdoctoral researchers at CHOP discussed their journeys to their current postdoc careers in "Voices on Diversity: Multiple Paths to Becoming a Scientist," kicking off a series dedicated to diversity in the journal Molecular Cell. The series focuses on publisher Cell Press' "commitment to amplifying the voices of underrepresented scientists."The two postdocs, Amaliris Guerra, PhD, and Francis Ayombil, PhD, wrote their respective bios.

Dr. Guerra is a postdoc in the lab of Stefano Rivella, PhD. She moved to Philadelphia from Utuado, Puerto Rico, at age 6. Her interest in science started in middle school, and she realized a love for biochemistry as a student at Temple University. She participated in the NSF Bridge to Doctorate program. She currently works on basic science research into iron metabolism and erythropoiesis, and she also is working to advance therapies for beta-thalassemia and sickle cell disease.

Dr. Ayombil is a postdoc in the lab of Rodney Camire, PhD. He grew up in Ghana and was encouraged to pursue research science by a professor at the University of Ghana. He obtained a PhD from the University of Vermont, where he studied the role of platelets and platelet-derived constituents in hemostasis. He hopes to launch an independent research career within the next two years to continue research on coagulation disorders.


Catch up on our headlines from our Dec. 4 In the News:

  • CHOP To Participate in Multi-institution MIS-C Research Study
  • And the Award of Excellence Goes to ...
  • New Insights Into Pediatric Brain Tumor Biology
  • Ingo Helbig, PhD, Receives Prestigious Biomedical Research Award
  • Acute Kidney Injury During Diabetic Ketoacidosis Linked to Brain Injury
  • Five CHOP Clinician-Scientists Welcomed by American Pediatric Society

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