ASCI New Members, Heart Transplant Policy, Batten Disease, Bone Marrow, PRiSM

 

The 2025 annual meeting of the Pediatric Research in Sports Medicine Society (PRiSM) was well attended by researchers in the Minds Matter Concussion Program and Orthopedic Center at Children's Hospital of Philadelphia. Also in this week's news, a new device allows scientists to recreate the environment of living human bone marrow, and two CHOP researchers are elected to the American Society for Clinical Investigation.

American Society for Clinical Investigation Elects CHOP Physician-Scientists

The American Society for Clinical Investigation (ASCI) welcomed 99 new members from 46 institutions for their contributions to advancing research across all medical specialties. Two CHOP researchers were elected as new members, Ethan Goldberg, MD, PhD, and Jorge Henao-Mejia, MD, PhD.

Dr. Goldberg is the Director of the Epilepsy Neurogenetics Initiative, specializing in the care of children with complex neurodevelopmental disorders such as epilepsy, developmental delay, and autism spectrum disorder. His Lab, which is affiliated with the Department of Neurology at Penn Medicine, is interested in how genetic variation leads to neurodevelopmental disorders and has been involved in the discovery and characterization of genetic epilepsies. His work has been recognized with numerous awards, including the American Society for Clinical Investigation Young Physician-Scientist Award.

Dr. Henao-Mejia, is a Senior Principal Scientist in the Department of Pathology and Laboratory Medicine and a core faculty member of the Immunology and Infectious Disease Research Initiative Team. His research focuses on investigating the molecular mechanisms that regulate the duration and intensity of immune responses, which can lead to chronic inflammation. His team discovered that inflammatory cells can be tightly regulated by certain groups of noncoding RNAs. Using cutting-edge gene-editing techniques, like CRISPR, they study how these regulatory RNAs in immune cells respond to external cues — such as diet or allergens — to either prevent or promote the progression of pathologies like cancer, asthma, and obesity. His work has earned Dr. Henao-Mejia several prestigious awards, including the PEW Biomedical Scholar Award.

The ASCI is one of the nation's oldest medical honor societies and is among the few organizations focused on the special role of physician-scientists in research, clinical care, and medical education, as well as leadership positions in academic medicine and the life sciences industry.

The induction ceremony will be held in April in Chicago. Congratulations to Drs. Goldberg and Henao-Mejia.

Study Reveals How Updates to Heart Transplant Policies Affect Different Patient Groups

Researchers from CHOP reviewed data on heart transplant waitlist outcomes to determine the effectiveness of new policy changes enacted in 2016 and 2018. The policy changes aimed to improve survival rates and outcomes for patients on the transplant waitlist by prioritizing those with the most pressing needs. They found that pediatric patients with congenital heart disease benefitted more than pediatric patients with cardiomyopathy, suggesting further adjustments can be made to transplant policy. Study results appeared in Circulation.

"Our findings underscore the importance of tailoring transplant policies to meet the unique needs of different patient groups," said Jonathan Edelson, MD, an Attending Physician with the Division of Cardiology. "Recent allocation updates have introduced life-saving improvements, but further refinements are needed to ensure that all patients have equitable access to care, including potentially life-saving technology."

By analyzing data from the United Network of Organ Sharing database, Dr. Edelson and the research team identified more than 11,000 pediatric and adult patients with congenital heart disease or cardiomyopathy listed for transplantation. The researchers grouped the patients by cardiac disease type and listing status before or after key policy changes, with survival rates and waitlist removals due to clinical deterioration compared across different time periods.

After 2016 policy updates, researchers found that children with congenital heart disease experienced better outcomes. They were less likely to die or be removed from the transplant waitlist within a year of being listed. However, children with cardiomyopathy, a disease that weakens the heart muscle, did not experience a notable reduction in waitlist mortality after policy changes.

After the 2018 policy changes, the data revealed that adults with cardiomyopathy saw significant improvements, but adults with congenital heart disease did not show the same improvements.

Learn more in this CHOP news brief.

Gene Therapy Reduces Bowel Symptoms in Preclinical Model of Batten Disease

In a collaborative study, researchers from CHOP and Washington University School of Medicine found preclinical evidence for a new type of gene therapy that could prevent enteric neuron degeneration, gradual loss of nerve cells in the digestive system, in children with Batten disease. The journal Science Translational Medicine published the findings.

Batten disease is a group of inherited nervous system disorders in which a child lacks a crucial enzyme that breaks down and recycles cellular waste. Children affected with the disease suffer cognitive decline, seizures, and progressive loss of sight and motor skills that eventually leads to death.

Building on prior research in which scientists supplied the missing enzyme to the brain in animal models via enzyme replacement therapy, the research team sought to find out whether gene therapy could reduce the gradual loss of nerve cells in the digestive system.

They found that the gene therapy produced reduced bowel symptoms and extended the lifespan of the animal models by preventing enteric neuron degeneration.

The enteric nervous system controls nearly all aspects of bowel function, including motility, epithelial biology, blood flow and immune cell function.

"For this reason, degeneration of bowel neurons causes vomiting, distension, constipation, abdominal pain, malnutrition and a predisposition to bowel inflammation, sepsis and death," said Robert Heuckeroth, MD, PhD, a Gastroenterologist and Research Director of the Suzi and Scott Lustgarten Center for GI Motility at CHOP. "This work shows that a serious disease of the enteric nervous system could be treated by gene therapy."

The researchers have begun to apply their findings to other forms of Batten disease and similar neurodegenerative conditions.

Read more in this CHOP press release.

Bone Marrow Breakthrough Addresses Critical Need in Medical Science

Researchers from University of Pennsylvania and CHOP, including G. Scott Worthen, MD, of the Division of Neonatology, developed a device that is the first of its kind to produce living human blood cells by mimicking human bone marrow's native environment. As previous animal studies have failed to fully replicate the complexities of human marrow, this breakthrough addresses a critical need in medical science.

The findings, published in Cell Stem Cell, demonstrate the ability of the device, a small plastic chip, to simulate common side effects of medical treatments such as chemotherapy and radiation on bone marrow, as well as how bone marrow communicates with other organs when protecting them from infections. This chip could eventually help scientists understand the biological signals and conditions needed to maintain or possibly generate hematopoietic stem cells isolated from human donors.

Find out more in this Penn blog post.

Pediatric Research in Sports Medicine Society Holds 12th Annual Meeting

The Pediatric Research in Sports Medicine Society (PRiSM) held its 12th Annual Meeting in Columbus, Ohio Jan. 30 to Feb. 1, fostering its goal to lead interdisciplinary research, education, and advancement in pediatric and adolescent sports medicine. Researchers from the Minds Matter Concussion Program and the Orthopedic Center at CHOP presented more than 30 posters and abstracts, and participated in panel discussions.

CHOP presenters during the scientific sessions included:

Christina Master, MD, Co-director of Minds Matter and President-elect of PRiSM Board of Directors, gave a presentation titled, "Functional Near Infrared Spectroscopy Distinguishes Concussed from Healthy Individuals Performing Complex Tandem Gait."

Co-clinical Director of Minds Matter, Matthew Grady, MD, presents during a scientific session at the PRiSM Annual Meeting.

Matthew Grady, MD, Co-clinical Director of Minds Matter, spoke on the predictive value of exercise step tests after a concussion. Mary Daley, MD, Jamie Shoop, PhD, and other colleagues gave an instructional course lecture on the psychological aspects of injury and returning to the sport.

Elliot Greenberg, PT, DPT, PhD, a Physical Therapist and Research Scientist in the Orthopedic Center at CHOP, moderated a scientific session and presented on the evolution of ultrasound-based assessment of patellar instability. Naomi Brown, MD, a Pediatric Sports Medicine Specialist, offered a hands-on workshop on pediatric musculoskeletal ultrasound.

Among the many scientific posters presented by CHOP researchers were:

"Age-Related Variations In Clinical Profiles for Children with Sports- and Recreation-related Concussion," by Daniel Corwin, MD, MSCE; Catherine McDonald, PhD, RN; Christina Master, MD; and Kristy Arbogast, PhD and

"Necessary Roughness: Recent Trends And Epidemiology Of Flag Football Injuries Over a 15-Year Period" by Elliot Greenberg, PT, DPT, PhD; Theodore Ganley, MD; Divya Talwar, PhD, MPH, BDS.

Other CHOP researchers who participated in the PRiSM conference include: Michael Beasley, MD; Megan Bowen; Martha Kebeh; Kevin Landrum; J. Todd Lawrence, MD, PhD; Kathleen McGuire, MD; Morgan Swanson; Akbar Syed, MD; Brendan Williams, MD; and Joseph Yellin, MD.

Read more about PRiSM's annual meeting.

ICYMI

Catch up on our headlines from our Jan. 24 In The News:

• Stephan Grupp Attends White House Cell and Gene Therapy Forum
• Early-career Investigators Receive CHOP Research Institute Support for Pilot Projects
• PCORI Funding Supports Investigation of Optimal Neonatal Resuscitation Strategies
• Survey of Trochleoplasty Experts Provides Insights to Guide Practice and Future Research
• Center for Autism Researchers Identify Opportunities to Improve Police Interactions with Black Autistic Youth
• Nurse Researcher Received Presidential Award for Exceptional Leadership Potential

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