Xiaofan Zhu – Fanconi Anemia

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<p><strong>Fanconi anemia</strong> is a rare autosomal or sex linked recessive genetic disease. The disease is characterized by <em>bone marrow hematopoiesis failure</em>, <em>multiple congenital abnormalities</em>, and <em>susceptibility to neoplastic diseases</em>. The cells of FA patients are extremely sensitive to MMC and DEB. The symptoms and ages of FA patients are different, so by comparing the exome of FA patients and their parents, the mutations that were accumulated in FA patients could be found, and these genes might be sensitive to repairment and be important for hematopoiesis maintainance.</p>

Rare Disease: