The dark side of birth defects; Investigation of novel genetic contributors to the aetiology of spina bifida.

This project has been funded thanks to the Joint Call Fondazione Cariplo and Fondazione Telethon 2025.

Spina bifida (SB) is a serious birth defect that occurs early in pregnancy when the spinal cord does not develop properly. It can result in lifelong disabilities, including difficulty walking and problems with bladder or bowel control. While fetal surgery during pregnancy can help reduce spinal cord damage, the underlying causes of SB remain largely unknown. Our research project focuses on a group of poorly understood genes known as Tdark genes, which may play a crucial role in the earliest stages of development. We aim to discover where and when these genes are active during neural tube formation. To do this, we will also use the chicken embryo as a model system, allowing us to observe in real time how these genes affect the formation and closure of the neural tube. This work could pave the way for earlier diagnosis and the development of new treatments for children affected by spina bifida and related neural tube defects.