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Vaccination in Higher Ed, New Genetic Disease, Concussions, Zebrafish

Published on September 29, 2023 in Cornerstone Blog · Last updated 6 months 1 week ago


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In The News: Vaccination, Genetics, Concussions, Zebrafish

This week we welcome the first days of fall and a fresh roundup of research news from Children’s Hospital of Philadelphia Research Institute. Read about efforts to encourage vaccine uptake in college students, studies on new and known genetic diseases, concussion research with college athletes, and a new method to study mitochondrial disease modeled in zebrafish.

‘Evidence to Action’ Brief Spotlights Vaccination Policies for Higher Education Students

An “Evidence to Action” brief written jointly by PolicyLab and the Vaccine Education Center highlights the need for policies that encourage vaccine uptake among students in higher education. The brief reviews the challenges that higher education institutions face in addressing vaccine uptake, responding to disease outbreaks, and provides recommendations for college and university health administrators to strengthen vaccine uptake in students. The brief includes evidence from before and during the COVID-19 pandemic.

“Even before the COVID-19 pandemic, many college and university students in the United States had not received all the recommended vaccines, endangering their health and that of the communities in which they reside and travel to,” the authors wrote. “Providing opportunities for students to catch up on vaccines can have the direct effect of preventing outbreaks while also encouraging students to adopt health-promoting behaviors that will follow them through the rest of their lives.”

Read the full brief.

Xilma R. Ortiz-Gonzalez
Xilma Ortiz-Gonzalez, MD

New Genetic Disease Linked to Variants in Iron-Encoding Genes

Researchers led by Xilma Ortiz-Gonzalez, MD, PhD, a physician-scientist specializing in pediatric neurogenetics, identified a new genetic disease caused by variants in FTH1, a gene that encodes the iron-storage protein ferritin. Ferritin is responsible for the delivery of iron to the brain, and disruption of this process has been implicated in some neurodegenerative disorders.

Variants in FTL, another gene that encodes ferritin, cause hereditary neuroferritinopathy, a type of neurodegeneration with brain iron accumulation (NBIA); however, this is the first time FTH1 variants have been associated with neurologic disease.

The researchers describe the new neuroferritinopathy, which they identified in five unrelated children who presented with developmental delay, epilepsy, and progressive neurologic decline. Using whole-exome sequencing, they identified the FTH1 variants.

“The data are consistent with the proposed mechanisms for FTL-associated hereditary neuroferritinopathy, suggesting some degree of shared downstream consequences, regardless of whether mutations occur in the ferritin light [FTL] or heavy chain [FLH],” the researchers wrote in HGG Advances.

Elizabeth McCormick, MS, LCGC

Elizabeth McCormick, MS, LCGC

CHOP Researchers Characterize More Than 100 Genes Associated With Leigh Syndrome Spectrum

Researchers at CHOP led an international group of experts who characterized more than 100 genes that are associated with Leigh syndrome spectrum, the most common form of mitochondrial disease in children.

The multiyear project involved evidence curation and expert panel review that led to a consensus among the mitochondrial disease research community. The new data will help facilitate diagnosis of the disease and develop new therapeutic options and clinical trials.

A group of 40 mitochondrial disease experts met first to establish Leigh syndrome spectrum curation criteria. After an extensive literature review and expert panel discussion, the researchers determined that 31 genes had a “definitive” relationship with Leigh syndrome spectrum, 38 had “moderate” gene-disease relationships, and 43 had a limited relationship. The journal Annals of Neurology published the project findings.

“As we broaden our understanding of Leigh syndrome spectrum, confirming the strength of the available evidence to support the relationship between which genes are linked to this disease and how they cause symptoms in patients is critical to making sure we are improving the diagnostic accuracy,” said study first author Elizabeth McCormick, MS, LCGC, a certified genetic counselor and senior research coordinator in the Mitochondrial Medicine Program at CHOP.

Learn more in a CHOP press release.

Christina L. Master
Christina Master, MD

Post-Injury Outcomes Worse for Athletes Experiencing Concussion Outside of Sports

College athletes who experience concussions outside of sports had worst post-injury outcomes than those they experienced while playing sports, CHOP researchers found. In addition, female athletes with concussions outside of sports had more severe symptoms and more days in sports lost to injury relative to male athletes.

The researchers, led by Christina Master, MD, clinical director of the Minds Matter Concussion Program at CHOP, analyzed data from 3,500 colleges athletes in the National Collegiate Athletic Association-Department of Defense Concussion Assessment, Research, and Education Consortium. Of those, 555 experienced a non-sports-related concussion.

They found that athletes who experienced non-sports-related concussions were less likely to report their injuries immediately, had greater symptom severity, more symptom days, and more days in sports lost to injury compared with those who experienced sports-related concussions. The findings appeared in the Journal of Athletic Training.

“Our findings show that non-sports mechanisms of injury for concussion are an important consideration in college age young adults, something we had already described in our research in younger children,” Dr. Master said. “There is an opportunity to improve clinical outcomes by increasing awareness and education around concussions that happen outside of sports and reducing healthcare reporting barriers in this older age group as well.

Learn more in CHOP News.

Marni J. Falk
Marni Falk, MD

Novel Method Developed Using MRI to Study Diseases Modeled in Zebrafish

Researchers at CHOP developed a noninvasive method to conduct magnetic resonance imaging (MRI) of adult zebrafish. The technique allows researchers to examine effects of certain genetic mutations associated with mitochondrial disease.

Scientists often work with zebrafish to create models to study diseases because they share about 70% of the genes found in humans; however as zebrafish age, their tissue becomes denser making their organs more difficult to study through usual microscopic methods.

By developing a new protocol to utilize MRI in zebrafish research, the researchers were able to capture high-resolution MRI of eight organs in adult zebrafish. Additionally, they discovered that significantly increased brain growth occurs in zebrafish with deficiency in the SURF1 gene, which is a gene associated with Leigh syndrome, a complex disorder typically caused by dysfunctional mitochondria. They also noticed smaller heart and spinal cord volumes in these zebrafish. The journal Zebrafish published the study findings.

“We plan on exploring the organ-level discoveries we made by using this novel MRI method to screen organ growth in adult zebrafish,” said senior study author Marni Falk, MD, executive director of the Mitochondrial Medicine Program at CHOP. “We are also working to develop additional biochemical imaging methods to further refine our understanding of the biochemical changes that occur in specific organs of living animals with primary mitochondrial disease.”

Learn more in a CHOP press release.


Catch up on our headlines from our Sept. 15 In the News:

  • Team KOODAC Among 12 Cancer Grand Challenges Finalists
  • Collaborative Research Program Receives CAROL Funding for Mitral Valve Disease Research
  • CHOP Scientist Presents Circadian Research at NHLBI Workshop
  • Neurologist Finds Treatments for SMA ‘Extremely Encouraging’

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