PAS Meeting, Kidney Function, Gene Therapy for Hemophilia B, CORES Pilot Awardees

 

Congratulations to three scientists from Children's Hospital of Philadelphia Research Institute who received recognition from academic organizations at the Pediatric Academic Societies Meeting in Hawaii! Also appearing in this week's news is the first long-term follow-up study of gene therapy to treat hemophilia B. The Center for Outcomes Research in Surgery (CORES) announces their pilot grant winners. This and more In The News.

CHOP Researchers Honored at Pediatric Academic Societies Meeting

Several organizations honored CHOP scientists at the 2025 Pediatric Academic Societies Meeting, hosted in Hawaii in April, for their dedication to excellence in improving children's health.

The American Society of Pediatric Nephrology (ASPN) recognized Executive Vice President and Chief Scientific Officer Susan Furth, MD, PhD, with the ASPN Founders Award for her lasting contributions in the field of pediatric nephrology.

Nominators praised Dr. Furth for her work in the Chronic Kidney Disease in Children study (CKiD), of which she has been the principal investigator of the East Coast Coordinating Center at CHOP since 2003. Through this study, Dr. Furth has helped characterize novel biomarkers of kidney injury associated with chronic kidney disease. She continues to oversee data collection and analysis, and improve recruitment and retention rates.

Awards winners Drs. Daniel Corwin and Amanda Muir together with Joseph St. Geme, MD (left), CHOP Chair of the Department of Pediatrics, at the PAS Meeting.

The Society for Pediatric Research (SPR) honored Daniel Corwin, MD, MSCE, Attending Physician in the Division of Emergency Medicine and Associate Director of the Minds Matter Concussion Program, with the Young Investigator Award for up-and-coming scientists dedicated to discovery-based pediatric research.

Dr. Corwin is instrumental in leading projects to examine risk factors for prolonged recovery from concussion and is dedicated to improving the diagnosis and management of pediatric concussion.

Additionally, SPR recognized Amanda Muir, MD, Attending Physician in the Division of Gastroenterology, Hepatology, and Nutrition, with the New Member Outstanding Science Award, which is awarded to new SPR members who have contributed to high quality scientific research and continue to demonstrate meaningful contributions in the pediatric academic field.

Dr. Muir strives to improve the lives of children with eosinophilic esophagitis by investigating the underlying mechanisms of esophageal inflammation and fibrosis. She is leading ongoing clinical and translational studies evaluating esophageal remodeling using high-resolution impedance palimetry to determine the distensibility of the esophagus.

Dr. Flaura Winston Elected to Association of American Physicians

Founder and Former Director of the Center for Injury Research and Prevention at CHOP, Flaura Winston, MD, PhD, is among the newly elected 2025 members of the Association of American Physicians.

"I'm honored to be elected to the Association of American Physicians," Dr. Winston said. "This recognition affirms the importance of injury prevention and treatment as essential to health, and it reflects the values I've worked to uphold throughout my career: curiosity, rigor, and a commitment to making a difference."

As a Distinguished Chair in the Department of Pediatrics, the former Director of the National Science Foundation Center for Child Injury and Prevention Studies, and Director of the Innovation Ecosystem at CHOP, Dr. Winston's interdisciplinary background in medicine, engineering, and public health has led to new patents, products, programs, policies, and laws, as well as a CHOP spin-out technology company called Diagnostic Driving Inc. She has published a robust collection of articles related to identifying and reducing crash risk in teens as well as implementing safe driving techniques.

The Association serves as a repository of the best medical minds and as a forum to create and disseminate knowledge, providing role models for upcoming generations of physicians and medical scientists. Among the AAP membership are Nobel laureates, and members of the National Academy of Science and the National Academy of Medicine.

Congratulations, Dr. Winston!

Study Analyzes Long-term Pediatric Kidney Health Following COVID-19 Infection

Researchers identified that COVID-19 infection was associated with a higher risk of adverse postacute kidney outcomes, particularly among those with preexisting chronic kidney disease (CKD) or acute kidney injury (AKI), suggesting the need for vigilant long-term monitoring. The study results from the retrospective cohort study were published in JAMA Network Open.

"Our findings show that pediatric patients may be at increased risk for kidney problems following SARS-CoV-2 infection, particularly children with existing kidney disease or those who experience kidney injury during the acute infection," said senior study author Michelle Denburg, MD, MSCE, an Attending Physician in the Division of Nephrology. "Monitoring of kidney function and early detection of CKD can help mitigate its long-term kidney and cardiovascular complications." 

The research team analyzed data of more than 1.9 million children and adolescent patients from 19 health institutions in the National Institutes of Health Researching COVID to Enhance Recovery (RECOVER) initiative from March 1, 2020, to May 1, 2023.

Deep Learning Algorithm Identifies Potential Disease-causing Variants

Researchers used a deep learning algorithm to pinpoint which variants are responsible for disease by identifying "footprints" in experimental results that indicate where the proteins are binding in noncoding regions of the human genome. The American Journal of Human Genetics published the findings.

Researchers performed ATAC-seq, an experimental genomic sequencing method that identifies "open" regions of the genome, and PRINT, a deep-learning-based method, to detect footprints of DNA-protein interactions. Using this method, Dr. Grant and his team found they could determine whether transcription factors were binding with varying strength to these sites depending on the variant.

"This situation is comparable to a police lineup," said senior study author Struan Grant, PhD, Co-leader of the Center for Spatial and Functional Genomics and the Daniel B. Burke Endowed Chair for Diabetes Research at CHOP. "You're looking at similar suspects together, so it can be challenging to know who the actual culprit is. With the approach we used in this study, we're able to pinpoint the disease-causing variant through identification of this so-called footprint."

Learn more in this CHOP news release.

Study Supports Long-term Efficacy for Hemophilia B Gene Therapy

Findings from the longest follow-up study to date for individuals receiving the gene therapy fidanacogene elaparvovec (Alprolix®, Sonofi) to treat hemophilia B builds evidence for its safety and efficacy as a long-term treatment. Hemophilia B is a rare, X-linked disorder resulting from a deficiency in coagulation factor IX (FIX).

The study team noted long-term efficacy was achieved at the lowest intravenous dose of a recombinant adeno-associated virus vector. Most patients who received the treatment maintained sustained levels of FIX activity and experienced fewer bleeding episodes, reduced joint pain, and an overall improvement in physical mobility. The findings were published in the New England Journal of Medicine.

"These results offer hope that gene therapy for hemophilia B has the potential to transform the standard of care, offering a future with greater independence and improved quality of life for hemophilia patients," said Benjamin Samelson-Jones, MD, PhD, a lead study author and an Attending Physician in the Division of Hematology at CHOP.

Dr. Samelson-Jones and his team, along with Professor John Rasko, AO, and his team at Royal Prince Alfred Hospital in Sydney, Australia, followed 14 male participants, 18 and older, for a period of three to six years with eight participants ongoing. Post-treatment data suggests that participants can significantly decrease or eliminate their reliance on FIX infusions, reducing the burden of treatment and healthcare costs. 

Learn more in this CHOP news release. This work was supported by Pfizer.

CORES Announces FY25 Pilot Grant Program Awardees

The Center for Outcomes REsearch in Surgery (CORES) announced its FY25 Pilot Grant Program awardees. Each team of interdisciplinary investigators and clinicians at CHOP received $25,000 to further their work in pediatric surgical outcomes research for one year.

Duy Dao, MD, MPH

• Beyond Gut Feelings: Leveraging Sonography for the Diagnosis and Prognostication of Necrotizing Enterocolitis in Neonates

This study, led by Duy Dao, MD, MPH Attending Pediatric Surgeon, Division of Pediatric General, Thoracic, and Fetal Surgery, aims to investigate whether sonographic findings over time can help to develop an imaging algorithm to facilitate necrotizing enterocolitis diagnosis, which mainly affects premature infants in the first few weeks of life.

• Establishing and Correlating Kinematic Baselines in the Myelomeningocele Patient Population: A Pilot Study

Adam Kundishora, MD

This study will investigate whether rapid, advanced gait analysis, such as that used to assess patients with movement disorders from traumatic spinal cord injury or cerebral palsy, is possible in the ambulatory spina bifida population. Principal Investigator, Adam Kundishora, MD, Pediatric Neurosurgeon, CHOP Division of Neurosurgery and his team will use data gathered from 4k cameras, which provide high resolution video, to characterize gait and lower extremity kinematics within subsets of patients with spina bifida.

Established in 2023, CORES supports and strengthens patient-centered outcomes research for children with surgical conditions. CORES provides specialized personnel and access to research-relevant databases to assist researchers within the Department of Surgery at CHOP.

New for FY26, CORES will be offering the Accelerator Grant. This grant will provide up to two years of funding to establish, maintain, or accelerate research. The Accelerator Grant is designed to lead to extramural grant applications for larger scale, applied outcomes research studies. The official request for applications will be available in mid- to late-summer of 2025. Contact Jing Karchin with questions about the CORES Accelerator Grant.

ICYMI

Catch up on our headlines from our April 18 In The News:

• Scientists Map a Path to Novel Insights in Neuroblastoma
• Wearable Device Accurately Detects Biomechanical Workload in Young Pitchers
• Academic-Community Partnership Aims to Ease Burnout for Under-resourced School Staff
• Society of Pediatric Radiology Invites CHOP Research Scholar to Present Award-winning Talk
• 1907 Trailblazer Award to Fund Microglia Replacement Research

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