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Kennedy, Alyssa, L. M.D., Ph.D.

Researcher Profiles

Researcher Profiles

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Alyssa L. Kennedy, M.D., Ph.D.

Alyssa L. Kennedy, M.D., Ph.D.

Dana-Farber Cancer Institute

2019 Funding recipient

Targeting Genetic Pathways of Transformation of Bone Marrow Failure-Associated MDS

EvansMDS Young Investigator Award

PROJECT SUMMARY

More frequently than previously recognized, children with MDS have inherited mutations that make them likely to develop these myeloid neoplasms. These inherited syndromes are called MDS predisposition syndromes and patients with these syndromes develop myeloid malignancies early in life. Recent studies show that mutations in these patients differ from adults with similar disease. Once MDS or leukemia develops, survival rates are drastically reduced. To better understand how disease-causing mutations arise, we are analyzing genetic sequences from patients with a predisposition syndrome. We hope these studies will identify novel ways to monitor and treat pediatric and young adult patients at high risk for MDS.

Our work has led to the description of a potential MDS surveillance test in patients with Shwachman-Diamond syndrome that will allow us to potentially detect early neoplastic clones. We also now understand that there are some mutations that occur in the bone marrow that are not dangerous and will not develop into a malignancy. With additional studies allowing us to look at more patients, we hope this will enable us to determine which patients need to have definitive treatment of hematopoietic transplant and those that can continue to be monitored and are at lower risk of myeloid malignancy.

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