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Bloom Syndrome
We are studying Bloom Syndrome, a rare recessive disorder caused by null germline variants in BLM, a gene that is involved in DNA repair. 
Patients with Bloom Syndrome develop cancers at early ages, most commonly hematologic and colon cancer. They are also sensitive to conventional chemotherapy and radiation due to their inability to repair DNA. We are using a Blm mouse model and patient samples to elucidate Blm deficiency on hematopoietic stem cell self-renewal and regeneration, as well as leukemogenesis.


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