Alyssa Kennedy Lab

My lab focuses on a specific type of bone marrow failure disorder called Shwachman-Diamond Syndrome (SDS). SDS is a recessively inherited disorder most often caused by a mutation in the SBDS gene, located on the long arm of chromosome 7. This gene encodes a protein called SBDS protein which is instrumental in eukaryotic ribosomal maturation and, therefore, normal ribosomal function.

Patients with this disorder have defects in ribosome maturation and translation and can develop bone marrow failure with a high risk of leukemia. Certain somatic mutations are more likely to cause cancer whereas other mutations are actually beneficial to the bone marrow and improve cell survival without causing cancer. We are investigating which mutations are malignant and which are adaptive. 

We use in vitro cell culture modeling including induced pluripotent stem cells, translational assays, single-cell genomics and functional genomic approaches to determine how somatic mutations affect SDS-induced ribosomal defect and to determine whether these mutations either contribute to malignancy or act in a compensatory manner to alleviate the disorder.   

Our goal is to identify genetic biomarkers for patients with bone marrow failure that can be used to indicate an increased risk of malignancy and develop the next generation of therapeutics that can be used to treat these children before they develop cancer. 

We are always looking for highly self-motivated scientists/engineers with passion and talent to join us! People with experimental background are also encouraged to apply.