Gary Kupfer, MD

Professor of Pediatrics (Hematology / Oncology) and of Pathology; Section Chief, Pediatric Hematology/Oncology; Clinical Program Leader, Pediatric Hematology & Oncology Program, Smilow Cancer Hospital; Disease Aligned Research Team Leader, Pediatric Hematology & Oncology Program, Yale Cancer Center

Research Interests

Fanconi Anemia; Hematology; Medical Oncology; Neoplasms by Histologic Type; Pediatrics; Therapeutics; Genomic Instability

Research Organizations

Pediatrics: Kupfer Lab | Pediatric Hematology & Oncology


Cancer Genetics

Molecular Virology: Virology Laboratories

Stem Cell Center, Yale

Yale Cancer Center: Radiobiology & Radiotherapy

Office of Cooperative Research

Research Summary

The Kupfer lab works on the relationship of genomic instability and the propensity towards development of cancer. Specifically, we focus on the genetic syndrome Fanconi anemia (FA). Interestingly, children with FA are born with congenital anomalies and develop aplastic anemia and an assortment of leukemias and other cancers. Based on our interest on marrow failure and genomic instability, we have also started working on 3 related projects. First, we have begun to purify the protein complexes containing gene products that are defective in 2 additional hematopoietic failure syndromes, Diamond-Blackfan anemia (DBA) and congenital dyserythropoietic anemia (CDA). As in FA, the proteins (RPS19 for DBA, codanin for CDA) have no known function, and additional genes accounting for additional genetic complementation groups remain to be cloned and identified. Second, we are investigating ways to use our knowledge of genomic instability for improving cancer therapeutics. Finally, we have also started a more clinical project, using mass spectroscopy technology we have used to find FA binding proteins. Again in collaboration with the Semmes laboratory, we have adapted the mass spec to analyze sera from patients with pediatric malignancies in order to identify unique protein markers of disease. These markers could then be used for diagnosis, prognosis, staging, and tracking of minimum residual disease in patients. In addition, our goal is to identify interesting proteins for further analysis in our laboratory.

Specialized Terms: Genomic instability; Development of cancer; Genetic syndrome Fanconi anemia (FA); Viral protein enhancement of cancer therapeutics

Extensive Research Description


Full List of PubMed Publications

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Contact Info

Gary Kupfer, MD
Patient Care Location
Yale Pediatric Hematology/OncologySmilow Cancer Hospital at Yale New Haven
35 Park Street, Ste 7th floor

New Haven, CT 06511
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Mailing Address
Pediatric Hematology & OncologyPO Box 208064
New Haven, CT 06520-8064

Kupfer Lab