Aleksandra Pekowska, leading the Dioscuri Center for Chromatin Biology and Epigenomics at the Nencki Institute, has received funding from the Marie Skłodowska-Curie Actions Doctoral Network Programme to carry out the project "Unveiling the molecular basis of chromatinopathies to delineate innovative therapeutic solutions – Chrom_rare."

Chrom_rare is an ambitious, multifaceted project aiming to determine how a deficiency in essential chromatin regulators affects genome function leading to chromatinopathies (CPs). CPs include rare genetic diseases with common clinical features including Kabuki, Charge, Rubinstein-Taybi, and Cornelia de Lange syndromes. Mutations underlying CPs lead to the inactivation of factors controlling the broadly understood chromatin activity, including gene expression and the organization of genetic material in the three-dimensional space of the cell nucleus. We already know the genes responsible for the mentioned CPs. However, the consequences of their absence, both at the molecular and functional levels, have not yet been defined.

The project will include an interdisciplinary training program that will prepare the next generation of scientists, equipped with advanced theoretical, technical, and computational skills, to study fundamental aspects of chromatin biology. It will combine patient-derived model systems with state-of-the-art technologies to discover the molecular basis of chromatinopathies. The project aims to develop strategies that will enable the translation of molecular discoveries into new diagnostic and therapeutic approaches for patients affected by CPs.