New Member National Academy of Medicine, Climate Change, Entrepreneurship

 

Congratulations to one of the newly elected members of the National Academy of Medicine, Alexis Thompson, MD, MPH, Chief of the Division of Hematology at Children's Hospital of Philadelphia, in recognition of her leadership in sickle cell disease (SCD) treatment and research. In other exciting news, researchers publish on the importance of accessible academic entrepreneurship training and study the genetic basis of linguistic differences. A collaborative project co-led by CHOP will create a novel research tool to improve kidney disease diagnosis and management, and cancer researchers elucidate the role of alternative splicing in B-cell acute lymphoblastic leukemia (B-ALL) chemotherapy resistance.

CHOP Hematology Chief Elected to National Academy of Medicine

Hematology expert Dr. Thompson, who also is the Elias Schwartz, MD, Endowed Chair in Hematology at CHOP, was elected to the National Academy of Medicine, one of the highest honors in health and medicine. Dr. Thompson achieved a landmark moment in her career in 2023, with the approval of the first two gene therapies for SCD.

"This recognition … reinforces that through teamwork and shared innovation, we can drive progress and ensure that every child receives the highest quality treatment available," said Dr. Thompson, a professor of Pediatrics at the University of Pennsylvania Perelman School of Medicine.

Among other highlights of her career are the creation of the first national SCD learning community and data repository, and academic collaborations to improve pediatrics SCD care in sub-Saharan Africa.

Learn more in this CHOP news release.

Accessible Entrepreneurship Training Critical to Patient-centered Innovation

Researchers from CHOP and the University of Pennsylvania described the successful implementation of a basic course in academic entrepreneurship for clinicians and scientists without experience in this area, who are motivated to translate research discoveries into medical innovations.

The Academic Entrepreneurship Fundamentals: A Professional Development Course focuses on innovation in biotechnology, providing a broad introduction to academic entrepreneurship along with hands-on training, networking opportunities, and insight into how to gather funding and other forms of support. Professionals in the biotechnology industry and academic professionals from Penn and the Innovation Ecosystem, a cross-functional team working to facilitate innovation by preparing CHOP faculty and staff through increasing capacity and training, led the course.

Victoria Bartek, MS, MSW, clinical research project manager at the Center for Injury Research and Prevention (CIRP) at CHOP, is first author on the paper. Co-authors are Innovation Ecosystem Co-directors Flaura Winston, MD, PhD, founder and former director of CIRP, and Daria Ferro, MD, clinical assistant professor at the University of Pennsylvania.

Their findings were published in Nature Biotechnology.

Study Highlights Genetic Links Between Childhood Speech and Language Disorders

CHOP researchers shared the results of the first study to examine the genetic basis of linguistic differences independent of other conditions. The findings highlight the genetic landscape of pediatric speech and language disorders, confirming the phenotypic complexity of linguistic traits and novel genotypes.

"We hope that the novel connections between genetic causes and specific speech and language disorders reported in the study will offer new and innovative possibilities for earlier intervention and personalized treatment plans," said Jan Magielski, a data scientist in the Helbig Laboratory and first author on the paper.

Investigators in the Department of Speech-Language Pathology, Division of Neurology, and the Department of Biomedical and Health Informatics (DBHI) at CHOP used a large-scale data mining approach to complete an in-depth characterization of speech and language disorders in the electronic health records (EHR) of 52,143 patients. The frequency of these disorders was the highest between 2 and 5 years old and spanned a spectrum of 26 broad speech and language diagnoses.

Their findings demonstrated connections with speech and language disorders and the genes STXBP1, PTEN, and CACNA1A. A sub-cohort of 726 individuals with whole-exome sequencing data revealed a boost of rare variants in neuronal receptor pathways, as well as associations of UQCRC1 and KIF17 with expressive aphasia; MROH8 and BCHE with poor speech; and USP37, SLC22A9 and UMODL1 with aphasia.

The researchers' findings were published in Brain. Learn more in this CHOP news release.

CHOP and Vanderbilt Scientists Lead Creation of Novel Kidney Disease Research Tool

CHOP and Vanderbilt University Medical Center (VUMC) received a $7.37 million grant to create the Urinary Stone Disease Hub (USDHub), a novel research tool that will collect de-identified data from more than 230,000 individuals with kidney stone disease to advance research into diagnosis and management.

Gregory Tasian, MD, MSCE, Director, Pediatric KIDney Stone (PKIDS) Care Improvement Network, and Ryan Hsi, MD, a urologist and associate professor in the Department of Urology at VUMC, will lead the five-year, National Institutes of Health-funded project.

"[USDHub] will finally provide us with longitudinal data and eliminate our reliance on single-center data sources that segregate pediatric and adult patients." Dr. Tasian said, who is also an associate professor at Penn Perelman School of Medicine. "We see the potential to significantly accelerate and improve urinary stone disease research."

In addition to CHOP and VUMC, this multisite effort includes University of North Carolina, Medical University of South Carolina, Duke University, Texas Children's Hospital, Nationwide Children's Hospital, Lurie Children's Hospital of Chicago and Cincinnati Children's Hospital.

Read more about the USDHub in this CHOP news release.

CHOP Researchers Highlight Role of Alternative Splicing in Chemotherapy Resistance

CHOP researchers demonstrated that alternative splicing is a potent mechanism of acquired drug resistance in relapsed/refractory acute lymphoblastic leukemias. Researchers noted that these findings have diagnostic and therapeutic implications for patients who lack mutations in known chemoresistance genes.

"These findings provide critical insights into the mechanisms of chemoresistance in children with B-cell acute lymphoblastic leukemia who relapse despite aggressive treatment," said Andrei Thomas-Tikhonenko, PhD, who is a senior study author and Chief of the Division of Cancer Pathobiology.

Leukemia accounts for approximately one-third of all pediatric-related cancers, with the majority of cases classified as B-ALL. Relapsed or refractory B-ALL has a significantly higher mortality rate due to disease recurrence, and it occurs in about 10-15% of patients with B-ALL.

Whole-exome and genome-sequencing research have revealed a low percentage of recurrent mutations in chemotherapy failure with B-ALL patients, suggesting that alternative mechanisms such as alternative gene splicing play a major role in gene dysregulation. Manuel Torres Diz, PhD, a bioinformatics scientist with the Arcus Omics Science Team at CHOP, led the study.

The findings were published in Cancer Research. Learn more in this CHOP press release.

Improving Risk Prediction During Adolescent Outpatient Screenings

A study published in JAMA Network Open analyzed the effectiveness of the Patient Health Questionnaire–9 (PHQ-9) compared to the PHQ-9 Modified (PHQ-9M) when predicting the risk of suicide attempts in youths. Results indicated that the modified version, which adds four supplemental questions to the original nine that assess depression in the questionnaire, improved the prediction of suicide attempts when screening adolescents.

First study author Fuchiang (Rich) Tsui, PhD, endowed chair in Biomedical Informatics and Entrepreneurial Science at CHOP, and colleagues compared the results of a patient's PHQ-9M with their EHR to further improve predictive modeling for suicidal behavior. The study team analyzed EHR data from a retrospective cohort of CHOP patients ages 12 to 17 who completed the PHQ-9M questionnaire during outpatient visits between 2016 and 2022.

"The more we can improve detection accuracy, the earlier we can design personalized intervention strategies," Dr. Tsui said.

Mitigating the Effects of Climate Change on Pediatric Health

Thought leaders and researchers from around the world are gathering for the 16th Annual CHOP Pediatric Global Health Conference this weekend at the Hub for Clinical Collaboration at CHOP. "Rising Up Together: Child Health in the Face of Climate Change," will explore how children are uniquely affected by climate change, as they are an especially vulnerable population due to their unique physiology and dependence on adults for their well-being.

"Climate change is our generation's greatest challenge — this conference will inform, inspire, and empower attendees to be part of the climate solution in each of our personal and professional lives," said Andrew Steenhoff, MBBCh, DCH, who is the Medical Director of the Global Health Center at CHOP. "To successfully overcome this generational challenge, each of us needs to be a part of the solution."

Learn more about the Global Health Center in this Cornerstone post.

Morgan Center Construction Highlighted in Trade Publication

Modern Steel Construction, the official publication of the American Institute of Steel Construction, featured the new construction of the Morgan Center for Research and Innovation.

The article highlighted how engineering teams adapted an existing steel-framed podium on the building site to create the 17-story, 350,000-square-foot tower. The adjustments allowed for additional space along South Street while reducing impact on the surrounding residential neighborhood. Scheduled to open in 2025, the Morgan Center will be a vibrant research environment that will emphasize collaboration with a wide range of scientific disciplines. 

Read the full article in Modern Steel Construction.

ICYMI

Catch up on our headlines from our Oct. 11 In The News:

• U.S. News & World Report Names CHOP Among Best Children's Hospitals
• CHOP Researchers Discover T-Cell 'Clock' in Aging Populations
• Ronald McDonald House Charities Recognizes Yael Mossé and John Maris
• Innovative Technology Grant Accelerates Real-Word Data Integration, Interpretation
• Study: Childhood Opioid Prescription Rates Vary by Socioeconomic Status, Race
• CHOP Researchers Present at the International Paediatric Brain Injury Society Conference
• Faculty Highlighted in Atlas of Inspiring Hispanic/Latinx Scientists

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