My research focuses on a disease known as myelodysplastic syndrome (MDS). MDS is a pre-leukemic bone marrow disorder that is characterized by ineffective production of red blood cells, neutrophils, and/or platelets. MDS occurs either in the elderly or people who have undergone treatment for a previous cancer, such as breast cancer, Hodgkin’s lymphoma, or non-Hodgkin’s lymphoma. Currently, the only effective treatment is a bone marrow transplant and patient survival rates are low, with only 35% surviving more than 3 years after diagnosis. The cause of MDS is still unknown and mutations in known cancer-causing genes are rare in patients, so it’s important to find the cause of the disease in order to develop better treatment. In 2011, a paper from Yoshida, et al. was published reporting that the sequencing of bone marrow of 29 patients with MDS revealed mutations in proteins involved in RNA splicing in nearly 50% of patients (1). These mutations were heterozygous and mutually exclusive, with the most common mutations occurring in U2AF1, SRSF2, SF3B1, and ZRSR2. Additional publications from multiple labs have confirmed these results and revealed that these mutations occur early in the disease and remain stable throughout the disease. Researchers think that these mutations could be a possible cause for MDS.
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