Research

Strategic Research Initiatives & Funding Priorities

Our work is organized into three high-priority pillars, each aligned with the latest advancements in federal and private research funding.

Our research integrates large‑scale genomic data, functional biology, and advanced computational approaches to understand the origins of childhood cancer and improve outcomes for patients and survivors.

A maroon tree where the trunk is a DNA double helix and the branches end in maroon, gold, and black human icons.

Pillar 1: Germline & Population Genomics

We investigate genomic variation to identify why some children are at higher risk of cancer.

The following are a partial list of large national grants:

  • The ADMIRAL Study A specialized admixture analysis focusing on Acute Lymphoblastic Leukemia (ALL) in African American children to address health disparities. (NIH National Cancer Institute | R01CA239701 | PI: Logan Spector)
  • Global Leukemia Genomics (GlobALL) Analyzing diverse worldwide populations to understand the universal and group-specific drivers of childhood leukemia. (NIH National Cancer Institute (NCI) and Childhood Cancer & Leukemia International Consortium | R01CA266253 | PIs: Logan Spector and Saonli Basu)
  • Genetic Pleiotropy Across Pediatric Cancers Exploring how shared genetic variations influence multiple cancer types and long-term health outcomes. (NIH National Cancer Institute | R01CA283333 | PI: Cindy Im)

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Pillar 1 Publications

  1. Im, C., Raduski, A. R., Mills, L. J., Bhattarai, K. R., Mobley, R. J., Barnett, K. R., Lu, Z., Liao, K., Anderson, N., Johnson, R. A., Langer, E. Hooten., A. J,, Seif, A. E., Bernt, K. M., Tsang, M., Mamou, B. A., Gil-de-Gómez, L., Wolfson, J. A., Friedman, D. N., Shukla, N., Klesse, L. J., Marcotte, E. L., Ji, L., Dang, A., Luo, M., Zhong, Y., Langie, J., Chiang, C. W. K., de Smith A., Wiemels, J. L., DeWan, A., Ma, X., Metayer, C., Wang, Z., Nelson, H. H., Pankratz, N., Yang, T., Basu, S., Turcotte, L. M., Yang, J. J., Savic, D., Scheurer, M. E., & Spector, L. G. (2025) Genome-wide association study of childhood B-cell acute lymphoblastic leukemia reveals novel African ancestry-specific susceptibility loci. Nat Commun, 16(1):8974. doi: 10.1038/s41467-025-64337-7. PMID: 41125582. PMCID: PMC12546916.
  2. Yang, T., Mills, L. J., Xue, H., Raduski, A., Williams, L. A., & Spector, L. G. (2022). Impact of fetal expression quantitative trait loci on transcriptome-wide association study of childhood leukemia. Human Molecular Genetics, 31(19), 3207-3215. doi: 10.1093/hmg/ddab336 PMCID: NA.
  3. Xie, T., Sorenson, J. C., Spector, L. G., Pankratz, N., Huang, R. S., Hiyama, E., Poynter, J. N., Tomlinson, G. E., Armengol, C., Kappler, R., Scheurer, M. E., Roman, E., Castellano, A., Grotzer, M. A., Ziegler, D, S., Basu, S., Marcotte, E, L., & Yang, T. (2025). Multiancestry Transcriptome-Wide Association Study Identifies Candidate Genes Associated with Hepatoblastoma. Cancer Epidemiol Biomarkers Prev, 34(8):1405-1414. doi: 10.1158/1055-9965.epi-24-1553 PMCID: NA.
  4. Cao, R., Li, C., Cui, E., Spector, L. G., Raduski, A., Anderson, N., Guan, W., Gordon, P., Im, C., & Yang, T. (2025) A Pseudotime-Dependent TWAS Framework Identifies Disease Genes along Cell Developmental Paths. medRxiv, 25338929. doi: 10.1101/2025.10.28.25338929. PMID: 41282726. PMCID: PMC12636649.
  5. Jung, E. M., Raduski, A. R., Mills, L. J., & Spector, L. G. (2025). A phenome-wide association study of polygenic scores for selected childhood cancer: Results from the UK Biobank. HGG Advances, 6(1), 100356. doi: 10.1016/j.xhgg.2024.100356 PMCID: PMC11538869.
  6. Rafati, M., Guenther, L. M., Egolf, L. E., Gianferante, D. M., Kim, J., Wang, K., Zhu, B., Spector, L. G., Anderson, N., Janeway, K. A., Barkauskas, D. A., Hawkins, D. S., Patiño-Garcia A., Lupo, P. J., Scheurer, M. E., Morton, L., Armstrong, G. T., Sapkota, Y., Gramatges, M. M., Serra, M., Hattinger, C., Scotlandi, K., Andrulis, I. L., Wunder, J. S., Ballinger, M. L., Thomas, D. M., Yeager, M., Dean, M., Stewart, D. R., Vogt, A., Liu, J., Hicks, B. D., Huang, W. Y., Landi, M. T., Lori, A., Diver, W. R., Savage, S. A., Chanock, S. J., & Mirabello L. (2025). SMARCAL1 is a new osteosarcoma predisposition gene. J Natl Cancer Inst. doi: 10.1093/jnci/djaf278. Epub ahead of print. PMID: 40996338. PMCID: NA.
  7. Mirabello, L., Zhu, B., Koster, R., Karlins, E., Dean, M., Yeager, M., Gianferante, M., Spector, L. G., Morton, L. M., Karyadi, D., Robison, L. L., Armstrong, G. T., Bhatia, S., Song, L., Pankratz, N., Pinheiro, M., Gastier-Foster, J. M., Gorlick, R., de Toledo SRC, Petrilli, A. S., Patino-Garcia, A., Lecanda, F., Gutierrez-Jimeno, M., Serra, M., Hattinger, C., Picci, P., Scotlandi, K., Flanagan, A. M., Tirabosco, R., Amary, M. F., Kurucu, N., Ilhan, I. E., Ballinger, M. L., Thomas, D. M., Barkauskas, D. A., Mejia-Baltodano, G., Valverde, P., Hicks, B. D., Zhu, B., Wang, M., Hutchinson, A. A., Tucker, M., Sampson, J., Landi, M. T., Freedman, N. D., Gapstur, S., Carter, B., Hoover, R. N., Chanock, S. J., & Savage, S. A. (2020). Frequency of pathogenic germline variants in cancer-susceptibility genes in patients with osteosarcoma. JAMA Oncology, 6(5), 724-734. doi: 10.1001/jamaoncol.2020.0197 PMCID: PMC7082769.
  8. Mills, L. J., Scott, M. C., Shah, P., Cunanan, A. R., Deshpande, A., Auch, B., Curtin, B., Beckman, K. B., Spector, L. G., Sarver, A. L., Subramanian, S., Richmond, T. A., & Modiano, J. F. (2020). Comparative analysis of genome-wide DNA methylation identifies patterns that associate with conserved transcriptional programs in osteosarcoma. Bone, 158, 115716. doi: 10.1016/j.bone.2020.115716 PMCID: PMC8076342.
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Pillar 2: Mutational Epidemiology and Cell of Origin

We "backtrack" cancer to its earliest moments to understand how tumors first take root.

The following are a partial list of large national grants

  • Leukemia Backtracking at Single-Cell Resolution (ReCORD) Using cord blood to identify somatic alterations that occur before birth, providing a window into early detection. (NIH National Cancer Institute | R01CA262012 | PI: Logan Spector)
  • Ancestry-Informed iPSC Modeling of Ewing Sarcoma Deconvoluting the genetic program of Ewing Sarcoma using advanced stem cell modeling informed by ancestral backgrounds. (NIH National Cancer Institute | R37CA276345 | PI: Beau Webber)
  • Breakpoint Agonistic Translocation Screening for Childhood Leukemia Investigating specific chromosomal rearrangements and genetic break points to understand the mechanisms of leukemogenesis in infants. (Children's Cancer Research Fund and NIH National Cancer Institute | R01CA269393 | PIs: Erin Marcotte & Heather Nelson)

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Pillar 2 Publications

  1. Spector, L.G., Clark, C., Lu, Z., Anderson, N., Marcotte, E. L., & de Smith, A. J. (2026) The Mutational Epidemiology of Childhood Cancer. Clin Chem, 72(1):140-151. doi: 10.1093/clinchem/hvaf154. PMID: 41468145. PMCID: NA.
  2. de Smith AJ, Wiemels JL, Mead AJ, Roberts I, Roy A, Spector LG. Backtracking to the future: unraveling the origins of childhood leukemia. Leukemia. 2024 Feb;38(2):416-419. doi: 10.1038/s41375-023-02111-8. Epub 2023 Dec 20. PMID: 38123697; PMCID: PMC11092887.
  3. Marcotte EL, Spector LG, Mendes-de-Almeida DP, Nelson HH. The Prenatal Origin of Childhood Leukemia: Potential Applications for Epidemiology and Newborn Screening. Front Pediatr. 2021 Apr 23;9:639479. doi: 10.3389/fped.2021.639479. PMID: 33968846; PMCID: PMC8102903.
  4. Clark CJ, Lu Z, Anderson N, Li Y, Park JE, Love M, Marcotte E, de Smith AJ, Spector LG. Hypothesis-generating analysis of mutational signatures in childhood B-cell acute lymphoblastic leukemia in relation to socio-demographic, genetic, and environmental factors: A report from the Children's Oncology Group. medRxiv [Preprint]. 2025 Oct 9:2025.10.02.25336752. doi: 10.1101/2025.10.02.25336752. PMID: 41282801; PMCID: PMC12632680.
  5. de Smith A, Elliott N, Tucker A, Liu T, Ahsan N, Mead A, Roberts I, Wiemels J, Roesler M, Spector L, Roy A. Backtracking the cellular origins of ETV6::RUNX1 childhood acute lymphoblastic leukemia in cord blood (ReCord study). Blood 2025; 146 (Supplement 1): 3368. doi: https://doi.org/10.1182/blood-2025-3368.
  6. Becklin KL, Draper GM, Madden RA, Kluesner MG, Koga T, Huang M, Weiss WA, Spector LG, Largaespada DA, Moriarity BS, Webber BR. Developing Bottom-Up Induced Pluripotent Stem Cell Derived Solid Tumor Models Using Precision Genome Editing Technologies. CRISPR J. 2022 Aug;5(4):517-535. doi: 10.1089/crispr.2022.0032. PMID: 35972367; PMCID: PMC9529369.
  7. Wenthe S, Johnson RA, Becklin KL, et al. 400 Modeling osteosarcoma progression and therapeutic response using engineered induced pluripotent stem cell-derived 3D organoids. Journal of Clinical and Translational Science. 2026;10(s1):128-129. doi:10.1017/cts.2026.10558.
A maroon human figure climbing black steps, reaching upward to hold a gold biological cell icon.

Pillar 3: Clinical Outcomes & Survivorship

Moving beyond the cure to mitigate "late effects" and improve the quality of life for survivors.

The following are a partial list of large national grants

  • Socioeconomic Determinants of Pediatric Cancer Outcomes A large-scale cohort study investigating how environmental and social factors impact pediatric cancer outcomes. (NIH National Cancer Institute | R01CA266105 | PI: Erin Marcotte)
  • Exosomal Signatures & Prognosis in Osteosarcoma Utilizing mRNA signatures to better predict patient prognosis and tailor intensity of therapy. (Venn Foundation | PI: Jaime Modiano)
  • Outcomes and Late Effects in Pediatric and Adolescent Germ Cell Tumor Survivors Evaluating the long-term health impacts and survivorship challenges following treatment for germ cell tumors in younger populations. (NIH National Cancer Institute and Department of Defense | HT94252510165 | PI: Jen Poynter)
  • Developing and Validating Race-Specific Cardiomyopathy Risk Prediction Models in African American Survivors of Childhood Cancer Creating precision screening tools to identify and mitigate cardiovascular risks specifically for African American survivors of pediatric cancer. (NIH National Cancer Institute | R01HL173881 | PI: Cindy Im)
  • Socioeconomic and Adversity-Associated Immunobiologic Influences on Pediatric Hematopoietic Cell Transplant Outcomes Examining how social determinants and environmental stress impact immune recovery and long-term success following stem cell transplants in children. (NIH National Cancer Institute | R01CA298935 | PI: Lucie Turcotte)

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Pillar 3 Publications

  1. Im, C., Hasan, H., Stene, E., Monick, S., Rader, R. K., Sheade, J., Wolfe, H., Lu, Z., Spector, L. G., McDonald, AJ., Nolan, V., Arnold, M. A., Conces, M. R., Moskowitz, C. S., Henderson, T. O., Robison, L. L., Armstrong, G. T., Yasui, Y., Nanda, R., Oeffinger, K. C., Neglia, J. P., Blaes, A., & Turcotte, L. M. (2025). Treatment, toxicity, and mortality after subsequent breast cancer in female survivors of childhood cancer. Nat Commun, 16(1):3088. doi: 10.1038/s41467-025-58434-w PMCID: PMC11958683.
  2. Im, C., Sharafeldin, N., Yuan, Y., Wang, Z., Sapkota, Y., Lu, Z., Spector, L. G., Howell, R. M., Arnold, M. A., Hudson, M. M., Ness, K. K., Robison, L. L., Bhatia, S., Armstrong, G. T., Neglia, J. P., Yasui, Y., & Turcotte, L. M. (2023). Polygenic risk and chemotherapy-related subsequent malignancies in childhood cancer survivors: A Childhood Cancer Survivor Study and St Jude Lifetime Cohort Study Report. Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology, 41(27), 4381-4393. doi: 10.1200/JCO.23.00428 PMCID: PMC10522108.
  3. Cha, J., Clark, C. J., Li, Y., Parsons, H., Spector, L. G., Poynter, J. N., Olshan, A. F., Sample, J., Van, Riper, D., Marcotte, E. (2026) Comparisons between individual- and area-level measures of socioeconomic status among childhood cancer patients: A report from the Children's Oncology Group (COG). Cancer Epidemiol, 102:103058. doi: 10.1016/j.canep.2026.103058. PMID: 41886800. PMCID: NA.
  4. Barragan, F. A., Mills, L. J., Raduski, A. R., Marcotte, E. L., Grinde, K. E., Spector, L. G., & Williams, L. A. (2023). Genetic ancestry, differential gene expression, and survival in pediatric B-cell acute lymphoblastic leukemia. Cancer medicine, 12(4):4761-4772. doi 10.1002/cam4.5266 PMCID: PMC9972134.
  5. Makielski, K. M., Donnelly, A. J., Khammanivong, A., Scott, M. C., Ortiz, A. R., Galvan, D. C., Tomiyasu, H., Amaya, C., Ward, K. A., Montoya, A., Garbe, J. R., Mills, L. J., Cutter, G. R., Fenger, J. M., Kisseberth, W. C., O'Brien, T. D., Weigel, B. J., Spector, L. G., Bryan, B. A., Subramanian, S., & Modiano, J. F. (2021). Development of an exosomal gene signature to detect residual disease in dogs with osteosarcoma using a novel xenograft platform and machine learning. Laboratory Investigation; A Journal of Technical Methods and Pathology, 101(12), 1585-1596. doi: 10.1038/s41374-021-00655-w PMCID: NA.
  6. Salama, R., Shuck, A., Lu, Z., Buff, K., Roesler, M. A., Paciente, C., & Spector, L.G. (2025) Patient and Family Demographics in the Momcology Pediatric Cancer Patient Advocacy Organization. Pediatr Blood Cancer. doi: 10.1002/pbc.32122. Epub ahead of print. PMID: 41157858. PMCID: NA.
Tags
GWAS
transcriptome-wide association study TWAS
ADMIRAL Study
GlobALL
B-cell acute lymphoblastic leukemia
osteosarcoma
hepatoblastoma
germline variants
mutational signatures
health disparities