Exploring Genetic Inheritance: NDAL Hosts Prof. Houlden and Dr. Magrinelli

From September 16-18, 2024, Professor Henry Houlden and Dr Francesca Magrinelli from University College London (UCL) visited NDAL for an academic meeting and knowledge exchange. Over three intensive days, the visiting professors examined a total of 18 families.

The first group of families included cases with known genetic causes, leading to functional analysis to better understand disease mechanisms. From the second day onward, families with multiple affected members and clear genetic inheritance—yet unresolved despite current methodologies—were examined, and Long Read Sequencing (LRS) was proposed for further study. 

In addition to neurological evaluations, the team addressed all inquiries from the families and collected various samples for further research. Turkish clinicians working with the patients were also present during parts of the meetings. The highly productive discussions and collaborations provided an excellent model for future engagements.