4/25/2025
Exciting news from the lab this week as our Master's student, Samuel Camilli, was award a Best Research Poster Award at the Boston University Graduate Medical Sciences Research Symposium. Sam's work is investigating the molecular roles of a zinc finger gene of unknown function in triple negative breast cancer. This work is supported, in part, by the Karen Grunebaum Foundation. Congratulations Sam, and a huge thank you to the Grunebaum Foundation for their invaluable support which makes this work possible.
4/16/2025
Our laboratory has made considerable progress in understanding the biological function of the uncharacterized zinc finger protein, ZNF280A. Excitingly, we have now convincingly demonstrated that ZNF280A is an important factor required for repairing DNA damage. Unrepaired DNA damage has major implications in human cells that can lead to the acquisition of mutations that can drive cancer development. In addition, unrepaired DNA damage is linked with developmental human syndromes, premature aging syndromes and neurodegeneration. As part of a study supported by the Karen Grunebaum Cancer Research Foundation, we have shown that ZNF280A is critical for DNA damage repair and that its absence likely contributes to several clinical features associated with a human developmental syndrome, called 22q11.2 distal deletion syndrome. Patients with this human syndrome present with clinical features including microcephaly (abnormally small head), short stature and growth defects and global developmental delay. In addition, these patients also experience higher rates of malignancy compared to the general population. Therefore, our study has helped to understand some of the underlying causes of a rare human genetic disease. Excitingly, this work was recently accepted for publication in a premier, world-leading academic journal. Our laboratory continues to work to further understand the biology of ZNF280A and how it is implicated in human disease, including several different cancer types.