Nurse-led Research, SYNGAP1 Variants, Pitcher of Hope

 

In this week's research news for Children's Hospital of Philadelphia, congratulations go out to the 2025 Pitcher of Hope recipient. A nurse-scientist emphasizes the importance of nurse-led research, in an opinion piece published by The Philadelphia Inquirer. Also featured are newly identified inherited variants of SYNGAP1-related disorders.

2025 Pitcher of Hope Award Emphasizes Commitment to Care

Dr. Stephen Hunger presents the Pitcher of Hope Award to John Simpkins (right) during the Alex’s Lemonade Stand event.

During the 2025 Alex's Lemonade Stand event held May 30 at the Hub for Clinical Collaboration, John Simpkins, MBA, Senior Director of the Physician Practice Administration and Cancer Service Line, and Chief Administrative Officer of the Cancer Center at CHOP, received the Pitcher of Hope Award.

"John is in many ways the heart and soul of the Cancer Center," said Stephen Hunger, MD, Chief of the Division of Oncology at CHOP. "John works tirelessly to support our team and allows us to deliver the best care possible to patients and their families. He demonstrates exceptional leadership through operational efficiencies in the Cancer Center while keeping our goals on track and supporting the growth of our team."

The award recognizes a CHOP employee who has positively impacted the field of Pediatric Oncology. Simpkins has served as the Chief Administrative Officer of the Cancer Center for the past 10 years. He helps oversee clinical and research operations and business growth at the Cancer Center, demonstrating his extraordinary commitment for caring for children with cancer.

Learn more in this CHOP news brief.

Expert Nurse-Scientist Promotes Nurse-led Research in The Philadelphia Inquirer

The Philadelphia Inquirer featured an opinion piece from Nurse Scientist and Ruth M. Colket Endowed Chair in Pediatric Nursing, Martha A.Q. Curley, RN, PhD; as well as Connie Ulrich, PhD, RN; and Mary Naylor, PhD, RN, from Penn Nursing. It considered the potential benefits to appointing the first doctorate-prepared nurse as the United States surgeon general.

"The surgeon general is charged with providing Americans with the best scientific information available on how to improve their health and reduce the risk of illness and injury," Dr. Curley explained in the article. "This science is the science of nursing, and nurse scientists have delivered on this agenda …"

Dr. Curley and her co-authors highlighted the ways in which nurse-led research has inspired valuable change in medical care, from conversations to ensure the best palliative care, to better understanding the physical and emotional burdens of chronic disease, and addressing staffing needs critical to quality patient care.

"Appointing the first doctorate-prepared nurse as surgeon general would … earn respect for appointing as a leader a member of the profession that the public already trusts with their care and well-being," the authors wrote.

At CHOP, Dr. Curley's research focuses on nurse-implemented interventions in pediatric critical care. Her multisite clinical trials also have high international impact and are considered standard setting in the interprofessional management of critically ill children with acute respiratory failure.

Learn more in The Philadelphia Inquirer article.

Researchers Identify Rare, Inherited SYNGAP1 Variants

Results from a natural history study of SYNGAP1-related disorders — a group of disorders characterized by developmental delay and often associated with epilepsy — showed that in rare instances, variants in the SYNGAP1 gene can be inherited from a parent. These findings could help to inform family planning, genetic variant interpretation, and other aspects of clinical care for patients with SYNGAP1-related disorders.

Most cases of SYNGAP1-related disorders are caused by de novo genetic variants, but the study identified eight total individuals among three families with inherited, protein-truncating variants in the SYNGAP1 gene. In two of the families, the patient inherited the variant from a heterozygous parent who had symptoms of SYNGAP1-related disorders themselves.

"In conducting this study, we are meeting a large number of families with SYNGAP1, and as a result, we are making additional discoveries like this one that we did not expect," said senior study author Jillian McKee, MD, PhD, an Epileptologist in the Epilepsy NeuroGenetics Initiative (ENGIN) at CHOP, who specializes in neurogenetic disorders. "The familial variants we identified may be rare, but these 'edge cases' can provide valuable insight into the spectrum of symptoms and their genetic causes."

Find out more in this CHOP news release. Epilepsia published the findings.

ICYMI

Catch up on our headlines from our May 30 In The News:

• CHOP-Penn Team Performs First Personalized CRISPR Gene-editing Therapy
• CHOP Investigator Receives Award from 2025 Pathogenesis of Infectious Disease Program
• Stem Cell Transplant Demonstrates Curative Potential for Inflammatory Bowel Disease
• ChatGPT-4 Demonstrates Capability for AI-driven Diagnostic Imaging of Liver

Keep up with our news, stories, and updates in real time by following us on X, Facebook, LinkedIn, Instagram, and Bluesky. Meet the minds behind the science in the Bench to Bedside podcast. Or subscribe to our newsletter to receive an email every other Friday.

Have you published a paper and want to share your findings? Contact Research Creative Services* so we can celebrate your research success stories on Cornerstone.

*CHOP login required.