Scientific Areas of Expertise: Genetics and Genomics, Pediatric Oncology, Precision Medicine
For instrumental contributions to the creation and implementation of the Pediatric Cancer Genome Project, which has resulted in the sequencing of more than 800 genomes of children with cancer and several landmark discoveries in the biology of brain tumors, leukemia, cancer of the peripheral nervous system, and tumors of the eye.
A pioneer and prominent authority in pediatric leukemia genetics and molecular biology, Dr. Downing has redefined the molecular understanding of childhood cancers and transformed pediatric oncology worldwide. A leading authority on the genetic basis of acute leukemias, he has identified novel fusion genes, driver mutations, and epigenetic regulators that distinguish biologically and clinically meaningful subtypes of both acute lymphoblastic leukemia and acute myeloid leukemia. As co founder of the Pediatric Cancer Genome Project, one of the most ambitious sequencing initiatives in pediatric cancer research, Dr. Downing oversaw the comprehensive genomic profiling of more than 700 tumors across 21 cancer types. This unprecedented effort revealed that many pediatric cancers harbor unique genetic alterations absent in adult malignancies, underscoring the need for pediatric specific therapies.
His discoveries have directly informed risk stratification systems, guided the development of targeted treatments, and improved survival outcomes for children with high risk disease. Dr. Downing has championed the integration of whole genome, exome, and transcriptome sequencing into routine clinical care, enabling precise molecular diagnoses, the identification of germline predisposition syndromes, and the tailoring of therapy to each patient’s tumor biology. Additionally, his research has extended beyond leukemias to illuminate the molecular drivers of pediatric solid tumors and brain cancers, including medulloblastoma and retinoblastoma, refining disease classification and revealing new therapeutic targets. Through his visionary leadership, genomic medicine has become a standard of care at St. Jude Children’s Research Hospital, serving as a global model for precision pediatric oncology. Dr. Downing’s groundbreaking scientific contributions and commitment to rapid clinical translation continue to shape the trajectory of cancer research, ensuring that children everywhere benefit from the most advanced, biology‑driven approaches to diagnosis and treatment.
Selected Awards and Honors
2020 AACR-St. Baldrick’s Foundation Award for Outstanding Achievement in Pediatric Cancer Research, Association for American Cancer Research, Philadelphia, Pennsylvania
2019 Pediatric Oncology Award and Lecture, American Society of Clinical Oncology, Alexandria,
Virginia
2017 E. Donnall Thomas Lecture and Prize, American Society of Hematology, Washington, DC
2017 The Society of Memorial Sloan Kettering Prize, The Society of Memorial Sloan Kettering, New York, New York
2016 Elected Fellow, American Academy of Arts and Sciences, Cambridge, Massachusetts
2016 Elected Member, Cancer Moonshot Blue Ribbon Panel for Vice President Joe Biden, National Cancer Advisory Board, National Cancer Institute, Bethesda, Maryland
2013 Elected Member, National Academy of Medicine, Washington, DC
2013 Finalist, World’s 100 Most Influential People, TIME Magazine, New York, New York
2012 Association for Molecular Pathology Award for Excellence, Association for Molecular Pathology Award for Excellence, Rockville, Maryland
2009 AACR Team Science Award, American Association for Cancer Research, Philadelphia, Pennsylvania
2007 Kenneth B. McCredie Memorial Lecturer, Leukemia & Lymphoma Society, Rye Brook, New York
2003 Elected Fellow, American Association for the Advancement of Science, Washington, DC
2003 Elected Member, Association of American Physicians
2003 Abbott Lectureship, United States and Canadian Academy of Pathology, Palm Springs, California
1999 Alumnus of the Year Award, University of Michigan, Dearborn, Michigan
1998 Elected Member, American Society for Clinical Investigation, Ann Arbor, Michigan
[Institutional affiliations listed for Fellows reflect those held at the time of their induction into the AACR Academy.]