About

Jill P. Ginsberg, M.D., is a Professor of Pediatrics (Oncology) at the Children's Hospital of Philadelphia. She serves as the Director of the Cancer Survivorship Program and the Fertility Preservation Program at the Children's Hospital of Philadelphia. Her clinical expertise focuses on fertility preservation in pediatric cancer patients. Dr. Ginsberg's educational background includes a B.S. in Biology from Cornell University and an M.D. from Cornell University Medical College. Her professional work involves research and clinical care related to childhood cancer survivorship, fertility preservation, and health outcomes of young cancer survivors.

Research topics

• Political Science
• Medicine
• Intensive care medicine
• Internal medicine
• Family medicine
• Law
• Medical education
• Gerontology
• Environmental health
• Public relations
• Pediatrics

Selected publications

• ASSESSING KNOWLEDGE AMONG OVARIAN TISSUE CRYOPRESERVATION PATIENTS

  Fertility and Sterility · 2025-12-01

  article
  PublisherDOI

• DNA Damage Response and Repair Genes and Anthracycline-Induced Cardiomyopathy in Childhood Cancer Survivors: A Report From the Children’s Oncology Group and the Childhood Cancer Survivor Study

  Circulation Genomic and Precision Medicine · 2025-03-28 · 3 citations

  articleOpen access

  BACKGROUND: Anthracyclines induce cardiotoxicity via DNA double-strand breaks and reactive oxygen species formation, resulting in cardiomyocyte dysfunction. The role of DNA damage response/repair (DDR) genes in anthracycline-induced cardiomyopathy remains unstudied. METHODS: We conducted a gene-based and pathway-based analysis to examine the main effect and gene-anthracycline interaction effect between DDR genes and anthracycline-induced cardiomyopathy. A discovery analysis performed with a matched case-control set of anthracycline-exposed non-Hispanic White childhood cancer survivors from Children's Oncology Group-ALTE03N1 (113 cases; 226 controls) was replicated using a cohort of anthracycline-exposed non-Hispanic White childhood cancer survivors from the Childhood Cancer Survivor Study cohort (n=1658; 97 cases). Functional analyses were performed by examining the response to doxorubicin of human-induced pluripotent stem cell-derived cardiomyocytes with CRISPR/Cas9-mediated knockout of prioritized genes. RESULTS: Successfully replicated DDR genes demonstrating main-effect association included FANCC ( P =0.037) and XRCC5 ( P =0.001) and demonstrated gene-anthracycline interaction included MGMT ( P =0.041). Knockouts of FANCC and MGMT in human-induced pluripotent stem cell-derived cardiomyocytes demonstrated significant resistance to doxorubicin, suggesting that these genes play a role in anthracycline-induced cardiotoxicity. Successfully replicated DDR pathways demonstrating main-effect association included base excision repair ( P =2.7×10 −4 ); role of BRCA1 in DDR ( P =9.2×10 −5 ); p53 signaling ( P <1×10 −16 ); role of checkpoint kinases proteins in cell cycle checkpoint control ( P <1×10 −16 ); mismatch repair ( P <10 −16 ); and double-strand break repair by homologous recombination ( P <1×10 −16 ). Successfully replicated DDR pathways demonstrating significant interaction effects included role of BRCA1 in DDR ( P =1.4×10 −4 ); p53 signaling ( P< 1×10 −16 ); the role of checkpoint kinases proteins in cell cycle checkpoint control ( P <1×10 −16 ); mismatch repair ( P <1×10 −16 ); cell cycle: G2/M DNA damage checkpoint regulation ( P =0.002); double-strand break repair by homologous recombination ( P =0.009); GADD45 signaling ( P =4.8×10 −4 ); and cell cycle control of chromosomal replication ( P =4.5×10 -4 ). CONCLUSIONS: These findings provide evidence for the role of DDR genes and pathways in anthracycline-induced cardiomyopathy and provide a framework for targeted therapeutic interventions.

  PublisherOA PDFDOI

• Alternative mRNA splicing in anthracycline-induced cardiomyopathy – a COG-ALTE03N1 report

  Cardio-Oncology · 2025-05-17 · 2 citations

  articleOpen access

  Abstract Background Anthracycline-induced cardiomyopathy is a well-established adverse consequence in childhood cancer survivors. Altered mRNA expression in the peripheral blood has been found at the level of genes and pathways among anthracycline-exposed childhood cancer survivors with and without cardiomyopathy. However, the role of aberrant alternative splicing in anthracycline-induced cardiomyopathy remains unexplored. The present study examined if transcript-specific events, due to alternative splicing occur in anthracycline-exposed childhood cancer survivors with and without cardiomyopathy. Methods Participants were anthracycline-exposed childhood cancer survivors with cardiomyopathy (cases) matched with anthracycline-exposed childhood cancer survivors without cardiomyopathy (controls; matched on primary cancer diagnosis, year of diagnosis, and race/ethnicity). mRNA sequencing was performed on total RNA from peripheral blood in 32 cases and 32 matched controls. Event-level splicing tool, rMATS (replicate Multivariate Analysis of Transcript Splicing) was used for quantitative profiling of alternative splicing events. Results A total of 45 alternative splicing events in 36 genes were identified. Using a prioritization strategy to filter the alternative splicing events, intron retention in RPS24 and skipped exon of PFND5 showed differential expression of altered transcripts. Conclusions We identified specific alternative splicing events in anthracycline-exposed childhood cancer survivors with and without cardiomyopathy. Our findings suggest that differential alternative splicing events can provide additional insight into the peripheral blood transcriptomic landscape of anthracycline-induced cardiomyopathy. Graphical abstract Central Illustration. Aberrant alternative splicing and anthracycline-induced cardiomyopathy. This study sought to identify alternative splice variants that are differentially abundant between anthracycline-exposed childhood cancer survivors that developed cardiomyopathy (cases) versus those who did not (controls). We observed dysregulated alternative splicing of PFDN5 and RPS24 is associated with the development of cardiomyopathy.Splicing defects in PFDN5 impair cytoskeletal protein folding, while RPS24 dysregulation affects their translation, disrupting actin and tubulin homeostasis. Together, these alterations destabilize cardiomyocyte structure, contributing to sarcomere disorganization and the development of cardiomyopathy. Created in BioRender. Singh, P. (2025) https://BioRender.com/59zmgls .

  PublisherOA PDFDOI

• Anthracycline-induced cardiomyopathy in childhood cancer survivors is associated with gene signatures of mitochondrial dysfunction—a COG ALTE03N1 report

  Cardio-Oncology · 2025-10-06

  articleOpen access

  BACKGROUND: Anthracycline-induced cardiomyopathy is a leading cause of morbidity and mortality in survivors of childhood cancer. The mitochondrion is a key mediator of the cytotoxic effects of anthracycline treatment and mitochondrial dysfunction is a hallmark of cardiomyopathy and heart failure. We sought to evaluate whether mitochondrial processes differ between anthracycline-exposed childhood cancer survivors who developed cardiomyopathy versus those who did not. METHODS: Peripheral blood was collected from 40 childhood cancer survivors who developed cardiomyopathy (cases) and 64 matched survivors who did not (controls). From these samples, gene expression was determined by RNA-Sequencing. Following bioinformatic processing, differential gene expression at the mRNA-level between cases and controls was determined. Human MitoCarta3.0, was utilized to determine if genes involved in mitochondrial processes were enriched for differential expression, and to identify differentially regulated mitochondrial pathways at the mRNA-level. RESULTS: 900 genes were identified as differentially expressed at the mRNA-level. The odds of a gene being differentially expressed were 2.43 times greater if it encodes for a protein that localizes to the mitochondria. Mitochondrial processes that were enriched for differentially expressed genes at the mRNA-level included electron transport chain complexes; reactive oxygen species metabolism; apoptosis, mitophagy, and autophagy; mitochondrial ribosome; mitochondrial transport and chaperones; and heme synthesis and processing. Additionally, we observed that a measure of pro-apoptotic balance (BAX to BCL-2 gene expression at the mRNA-level) was highest in severe cardiomyopathy, intermediate in mild cardiomyopathy, and lowest in survivors without cardiomyopathy. CONCLUSIONS: We observed substantial evidence that the expression of genes involved in mitochondrial processes differs in childhood cancer survivors who develop cardiomyopathy versus those who do not.

  PublisherOA PDFDOI

• Transfusion-related iron overload in survivors of childhood cancer

  Blood Cells Molecules and Diseases · 2025-12-23 · 1 citations

  articleSenior author
  PublisherDOI

• Characterizing patients who underwent ovarian tissue cryopreservation at a large academic center in the United States

  F&S Reports · 2025-10-01 · 1 citations

  articleOpen access

  Objective: To describe characteristics and outcomes of ovarian tissue cryopreservation (OTC) patients over nearly 2 decades of institutional experience. Design: Retrospective observational study. Subjects: All patients who underwent OTC for any indication from January 1, 2008 to November 1, 2024. Exposure: Ovarian tissue cryopreservation at a combined academic fertility program at the Children's Hospital of Philadelphia and the Hospital of the University of Pennsylvania. Main Outcome Measures: Fertility outcomes were assessed, including oocyte and embryo vitrification, autologous ovarian tissue transplantation (OTT), pregnancies, and live births. Additionally, gonadotoxic treatment exposure and association with post-OTC outcomes, such as the development of premature ovarian insufficiency, hormone replacement initiation, and overall survival, were evaluated. Results: Of 216 patients who underwent OTC, 39 had procedures at Hospital of the University of Pennsylvania (median age, 24.4 ± 7.8 years), and 177 underwent procedures at the Children's Hospital of Philadelphia (10.3 ± 5.9 years). Malignancy was the indication for 77.8% of OTC procedures, whereas 22.2% of procedures had benign indications. Ovarian tissue cryopreservation procedures (biopsy, 92.1%; oophorectomy, 7.9%) were performed laparoscopically in most patients, with a small minority of procedures performed abdominally as part of a concurrent open procedure for clinical care. Concomitant oophoropexy was performed in 16 patients (7.4%) at the time of OTC. Additional fertility procedures included oocyte vitrification (n = 35, 25.7% via stimulation and 74.3% from the ovarian tissue) and embryo vitrification (n = 1, 0.5%). One patient underwent OTT but ultimately needed donor oocytes to have a live birth. Five patients had unassisted pregnancies with live births, and 2 patients had a live birth after an intrauterine insemination. Of the 208 patients (96.7%) who received chemotherapy after OTC, 198 (95.2%) were exposed to alkylating agents. Of 115 patients with follow-up data, 68.8% were diagnosed with premature ovarian insufficiency, and 63.6% initiated hormone replacement. At time of analysis, 29 patients (13.4%) were deceased. Conclusion: Ovarian tissue cryopreservation minimizes treatment delay and offers autologous fertility preservation. Although mortality rates in our cohort are relatively high, OTC provides the opportunity to preserve fertility, and some conceive without assistance. At our institution, only one patient has returned to undergo OTT. Additional studies are needed to understand patient factors that may contribute to tissue utilization to improve counseling and increase transplantation rates.

  PublisherDOI

• A pilot study of device-assessed physical activity and ecological momentary assessment among adolescent and young adult survivors of childhood cancer

  Annals of Behavioral Medicine · 2025-01-01 · 6 citations

  article

  BACKGROUND: Adolescent and young adult survivors of childhood cancer (AYA) are at risk for treatment-related late effects (eg, heart and lung problems) which may be mitigated by physical activity (PA). To design effective, tailored PA interventions for this population, predictors and benefits of PA behavior need to be measured in real-time. PURPOSE: To examine the feasibility and acceptability of ecological momentary assessment (EMA) combined with accelerometry and explore the dynamic associations between PA and real-time physical and psychosocial factors among AYA. METHODS: AYA (N = 20, mean age = 18.9 years) recently off cancer treatment participated in a 2-week intensive monitoring protocol in which they completed up to 4 EMA surveys/day assessing current mood, pain, fatigue, arousal, PA intentions and motivation, and social-environmental context, while PA levels were passively monitored using a wrist-worn ActiGraph GT9X accelerometer. Acceptability was measured via self-report. RESULTS: EMA and accelerometry were feasible and acceptable (≥70% compliance and study endorsement) for AYA. Multilevel models showed that AYA engaged in more PA when they were away from home, with others, in a better mood, less fatigued, more energetic, and more motivated than their own average levels. Further, when AYA engaged in more PA than their usual levels in the hour before completing an EMA survey, they subsequently reported less fatigue, less pain, more energy, and a more positive mood. CONCLUSIONS: EMA and accelerometry are acceptable and feasible among AYA survivors of childhood cancer. This methodology can be utilized for understanding the real-time barriers, facilitators, and benefits of PA behaviors in this at-risk population to design effective, dynamic PA interventions.

  PublisherDOI

• Is the time right for transplanting immature testicular tissue or cells to restore male fertility? Expert perspectives on clinical implementation of autotransplantation of cryopreserved testicular tissue or cells for fertility restoration

  Best Practice & Research Clinical Obstetrics & Gynaecology · 2025-07-15 · 5 citations

  reviewOpen access

  Transplantations of cryopreserved immature testicular tissue (ITT) or spermatogonial stem cells (SSCs) represent promising approaches to restore fertility in patients with testicular tissue or cell suspension cryopreserved for fertility preservation. With over 3,000 testicular samples cryopreserved globally, clinically viable and standardized protocols restoring fertility using cryopreserved testicular tissue/cells are urgently needed. Decades of research demonstrate the feasibility of immature testicular tissue transplantation (ITTT) or spermatogonial stem cell transplantation (SSCT) in animal models, including non-human primates. However, significant challenges remain in translating these options to human clinical practice. Critical factors include rigorous patient selection, robust pre-transplant evaluations to mitigate risks of malignant cell reintroduction, and the optimization of transplantation timing to support spermatogenesis. Developing comprehensive follow-up protocols and international data-sharing frameworks is essential to optimize outcomes. While offering the potential for genetic parenthood and enhanced quality of life for cancer survivors, these techniques require further refinement to ensure safety, efficacy, and realistic expectations. This paper outlines the framework for advancing the clinical translation of autotransplantation of testicular tissue/cells through collaboration and innovation. • More than 3000 testicular samples have been cryopreserved for fertility preservation • Spermatogonial stem cell or immature testicular tissue transplants have been successful in animals • Testicular tissue cryopreservation is experimental due to unproven fertility restoration • Standardized transplantation protocols are urgently needed • Standardized post-transplant follow-up is needed to improve protocols and outcomes • Small patient numbers per center necessitate data sharing for progress

  PublisherDOI

• Transfusion-related Iron Overload in Survivors of Childhood Cancer

  2024-11-08

  preprintOpen accessSenior author

  Purpose: To assess the prevalence and severity of transfusion-associated iron overload in survivors of childhood cancer. Patients and Methods: Serum iron, total iron binding capacity, percent iron saturation and ferritin were measured in 75 survivors of childhood cancer. In addition, blood bank records were reviewed to determine the volume of packed red blood cells (pRBCs) administered during cancer therapy. Patients who received > 120ml/kg of pRBCs or had a ferritin > 1,000mcg/L underwent hepatic R2 and cardiac T2* MRI for iron quantification, echocardiogram, assessment of liver and endocrine function, and genetic analysis for hereditary hemochromatosis. Results: Forty-nine patients qualified for second level studies. Of these, 35 completed the MRI scans. Fifteen patients had a liver iron concentration (LIC) >3mg iron/g (moderate hepatic iron overload), including eight patients who had an LIC greater than 7 mg iron/g (severe hepatic iron overload), with a mean LIC of 4.3 mg iron/g (0-15.6mg iron/g). LIC correlated with both total volume of pRBCs and ferritin. No patient had cardiac iron loading by MRI. Eleven patients were heterozygous and one was homozygous for mutations associated with hereditary hemochromatosis. There was no correlation between iron overload and hereditary hemochromatosis gene status. Conclusion: There is a high prevalence of transfusion-associated iron overload among survivors of childhood cancer. This is concerning given the overlap between organ toxicities associated with cancer treatment and those known to be associated with iron overload. The tight correlation between LIC and ferritin suggests ferritin may be a reliable indicator of iron load in this patient population.

  PublisherOA PDFDOI

• Time to diagnosis among young patients with cancer

  Pediatric Blood & Cancer · 2024-06-12 · 5 citations

  articleOpen access

  BACKGROUND: Sociodemographic and clinical factors associated with diagnostic delays in pediatric, adolescent, and young adult cancers are poorly understood. METHODS: Using the Optum Labs Data Warehouse's de-identified claims data for commercial health plan enrollees, we identified children (0-14 years) and adolescents/young adults (AYAs) (15-39 years) diagnosed with one of 10 common cancers from 2001 to 2017, who were continuously enrolled for 6 months preceding diagnosis. Time to diagnosis was calculated as days between first medical encounter with possible cancer symptoms and cancer diagnosis date. Median times from first symptom to diagnosis were compared using Wilcoxon rank sum test. Multivariable unconditional logistic regression identified sociodemographic factors associated with longer time (>3 months) to cancer diagnosis (from symptom onset). RESULTS: Of 47,296 patients, 87% presented prior to diagnosis with symptoms. Patients with central nervous system (CNS) tumors were most likely to present with symptoms (93%), whereas patients with cervical cancer were least likely (70%). Symptoms varied by malignancy. Of patients with symptoms, thyroid (105 days [range: 50-154]) and cervical (104 days [range: 41-151]) cancer had the longest median time to diagnosis. Females and patients at either end of the age spectrum were more likely to experience diagnosis delays of more than 3 months. CONCLUSION: In a commercially insured population, time to diagnosis varies by cancer type, age, and sex. Further work is needed to understand the patient, provider, and health system-level factors contributing to time from symptom onset to diagnosis, specifically in the very young children and the young adult patient population going forward.

  PublisherOA PDFDOI

Recent grants

• NIH Grant M01RR000240

  NIH · $6.4M · 2006

• NIH Grant R21HD061217

  NIH · $465k · 2012

Frequent coauthors

• Leslie L. Robison

  152 shared

• Wendy L. Hobbie

  Children's Hospital of Philadelphia

  108 shared

• Kevin C. Oeffinger

  104 shared

• Melissa M. Hudson

  St. Jude Children's Research Hospital

  94 shared

• Claire Carlson

  Children's Hospital of Philadelphia

  87 shared

• Lisa A. Schwartz

  Children's Hospital of Philadelphia

  79 shared

• Kirsten K. Ness

  St. Jude Children's Research Hospital

  76 shared

• Javier G. Blanco

  68 shared

Labs

• Ginsberg LabPI