Genome Integrity in Cancer and Neurologic Syndromes

A robust and efficient mechanism for maintaining genome integrity is crucial for passing down traits from one generation to the next, as well as preserving tissue and cell homeostasis. Alterations in energy and metabolic processes can have profound effects on genome integrity.

Many developmental disorders and human diseases, including cancer and neuropsychiatric disorders, are caused by flawed maintenance of genome integrity and stability. Despite significant progress in understanding the causes and consequences of genome deterioration, many key mechanisms regulating the homeostatic balance of chromatin and predisposing its regions to become aberrantly restrictive or permissive are yet to be fully explored.

Our goal is to establish a comprehensive measure of genomic integrity in order to elucidate complex interrelationships between genomic architecture, genome maintenance mechanisms and phenotypic traits. Last but not least, we will work towards development of clinical guidelines and industry-grade standards for application of genome integrity metrics in diagnostics, prognostics and treatment selection.


pRb-E2F pathway is a fundamental regulator of cell cycle progression, and RNA processing and is de-regulated in cancer. Altered RNA splicing generates immunologically meaningful neoantigens to trigger an effective anti-tumor immune response. Comparative bioinformatic analysis of tumour biomaterial and healthy tissue allows us to create a collection of neoepitopes and select those that may ensure maximum anti-tumour immune response.

We aim to develop analytical and computational approaches to search for neoantigens through the integration of high-throughput molecular data and clinical cohorts. Identification of a wider array of tumour neoepitopes will contribute to a more complete understanding of the tumour immune landscape and to the development of personalized cancer vaccines.