CVI Leadership, Rare Tumor Research, Congenital Diaphragmatic Hernia, Sequencing Techniques

 

Congratulations go out to new leadership selected for Children's Hospital of Philadelphia Cardiovascular Institute, and to a pediatric oncologist awarded for making strides in rare tumor research. Also in this week's news, scientists studied survival rates of patients with congenital diaphragmatic hernia, and a review explores the advances in long-read sequencing methods.

CHOP Cardiovascular Institute Announces New Leadership

The CHOP Cardiovascular Institute (CVI) announced its new executive leadership group, including the inaugural Director of Translational Research Andrew Landstrom, MD, PhD. Dr. Landstrom is a renowned physician-scientist specializing in heritable arrhythmias, cardiomyopathies, and genetic cardiac diseases. He will spearhead the development of a translational research program at CHOP targeting pediatric heart and vascular disease. Dr. Landstrom will join CHOP from the Duke University School of Medicine in February 2026.

"This will be a first-of-its-kind comprehensive pediatric cardiovascular research enterprise united by a shared vision," said CHOP CVI Director Daniel P. Kelly, MD. "These leaders are set to spearhead innovative approaches to research, treatment, and continuous care, and their efforts will empower our patients and their families to live their fullest and most vibrant lives."

In addition, Liming Pei, PhD, is the inaugural Director of Fundamental Discovery. In this role, Dr. Pei will advance laboratory-based research and foster collaborations across CHOP and the School of Medicine at the University of Pennsylvania, strengthening existing links with the Penn CVI and Institute for Diabetes, Obesity, and Metabolism to address cardiometabolic disease across the lifespan.

Michael O'Byrne, MD, MSCE, is the inaugural Director of Clinical Research, where he will lead the development of a comprehensive clinical research strategy, integrating clinical science with basic and translational research. Dr. O'Byrne also will foster interactions with the clinicians and researchers in the Cardiac Center at CHOP.

Learn more in this CHOP news release.

Pediatric Oncologist to Advance Research, Care for Patients with Rare Tumors

The National Cancer Institute awarded Theodore Laetsch, MD, a pediatric oncologist and leader of the Very Rare Malignant Tumors Program, a $1 million multi-year grant to advance research and care for patients with rare tumors.

"This grant represents a pivotal milestone in our quest to transform rare tumor research and enhance patient outcomes," Dr. Laetsch said. "Our mission is to bridge gaps in clinical research and ensure that children and adolescents have access to cutting-edge precision treatment options."

The funding will allow Dr. Laetsch and his colleagues to focus on immunotherapy trials and molecularly targeted therapies for rare cancers. This initiative will oversee the development of novel studies for patients never previously researched within the Children's Oncology Group, such as those with thyroid cancer and melanoma.

The grant will also support the Advanced Personalized Therapeutics and Precision Surgery Frontier Program, a pediatric-adult rare tumor program at the Leonard and Madlyn Abramson Pediatric Research Center at CHOP. The program seeks to increase enrollment in both the National Clinical Trials Network and investigator-initiated precision medicine trials for children and adults with rare tumors.

Learn more in this CHOP news release.

Researchers Identify Disparities in Hospital Survival Rates for Patients with CDH

Holly Hedrick, MD

Survival rates for congenital diaphragmatic hernia (CDH) have been shown to vary significantly depending on the treatment approach, according to a retrospective study conducted by CHOP researchers. The first of its kind in North America, this study demonstrated inter-center variation for CDH patients treated with and without extracorporeal membrane oxygenation (ECMO), an advanced life support technique used for patients with life-threatening heart and/or lung problems. CDH is a severe birth defect where abdominal organs move into the chest.

"Our findings show that for a baby with CDH, every detail matters, from prenatal diagnosis to delivery, surgery, and long-term care," said Holly Hedrick, MD, a senior study author and pediatric and fetal surgeon in the Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment at CHOP. "That's why it's essential to seek a fetal therapy center with extensive experience in managing CDH through every stage of pregnancy and beyond."

Researchers retrospectively analyzed more than 3,600 CDH cases from the Children's Hospitals Neonatal Consortium database between 2010 and 2022. They found some hospitals had 18 times higher survival rates, 35 times better chances of avoiding ECMO, and 3.3 times shorter hospital stays than others. These results suggest that hospital-specific best practices, protocols, and expertise play a critical role in determining outcomes for CDH patients.

The study was published in Pediatric Research. Learn more in this CHOP news brief.

Scientists Discuss Innovation in Long-read Sequencing Techniques

A review published in Nature Review Genetics discussed the advances and future directions in haplotype phasing, which allows researchers to determine which genetic variants reside on the same chromosome, and genotype imputation, in which researchers infer unobserved genotypes.

These techniques are useful tools for improving genomic analysis in genome-wide association studies. In the review, Quan Sun, PhD, Research Assistant Professor in the Department of Pathology and Laboratory Medicine at CHOP and Penn, called for researchers to consider tool choice, quality control filters, reference panel options, and data privacy concerns to leverage fully long-read sequencing technologies.

Recent method developments have primarily focused on computational improvements to accommodate larger sample sizes and variants, including novel approaches to rare variant haplotype phasing. Dr. Sun and colleagues concluded that as long-read sequencing technology continues to evolve, the scale of population genomic datasets and complete genome assemblies continues to increase, and with it will come new opportunities for innovation.

ICYMI

Catch up on our headlines from our Sept. 19 In The News:

• Researchers Find New Therapies Show Promise Against ALK-driven Cancers
• Smoking Cessation Intervention in Pediatric Primary Care
• Preclinical CAR T Studies Lay Groundwork for More Effective Solid Pediatric Tumor Treatment
• CHOP Leads Quality Improvement Effort to Increase Dental Varnish Rates
• Ana Cristancho Honored With Prestigious Young Investigator Award

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