Unveiling the molecular functions of CCDC32: a tDARK associated with non-specific syndromic intellectual disability and congenital abnormalities

This project has been approved for funding - the activation procedure is still pending

This project has been funded thanks to the Joint Call Fondazione Cariplo and Fondazione Telethon 2023

The human brain is a remarkable and complex organ that relies on precise molecular and cellular processes to function properly. When these processes go awry, they can lead to a wide range of intellectual disabilities that we are still struggling to understand and treat.

Our focus here is on a specific gene called CCDC32, classified as "tDark" and thus largely uncharacterized. As our collaborators have shown, loss of function of CCDC32 directly results in a rare and non-specific syndromic intellectual disability, often accompanied by physical abnormalities. What makes this gene so mysterious is that we have limited knowledge of its cellular and molecular functions, which is a significant hurdle to understanding and potentially finding a cure or amelioration for this rare condition. Imagine the brain as a complex orchestra, with each gene playing a unique melody. CCDC32 is like a hidden instrument in this orchestra, contributing to the symphony, but when it stops playing, the whole music becomes dissonant. Understanding how it works is important to understanding the brain symphony.

Our laboratory is equipped with advanced technologies that will allow us to conduct a comprehensive study of CCDC32. By delving into its function, we will provide a critical foundation for understanding not only this specific gene, but also the broader mechanisms underlying rare intellectual disabilities and associated physical malformations. Our efforts hold the promise of aiding in diagnosis, prognosis and treatment, as well as raising awareness of rare disease research and ultimately offering hope to those affected by these conditions.