Leveraging Genetic Code Expansion to Better Understand a Neurodevelopmental Disorder скачать в хорошем качестве

Leveraging Genetic Code Expansion to Better Understand a Neurodevelopmental Disorder

Talk given by May Chakrabandhu (Cote D'azure, France) as part of the International GCE Webinar series. Live talk given on March 20th, 2025. Many genetic diseases arise from disrupted protein-protein interactions (PPIs) caused by defective proteins. Understanding these interactions provides crucial insights into disease mechanisms and guides targeted therapies. Here, we discuss our study on Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), a rare disorder caused by NR2F1 mutations, in which we leverage the incorporation of photocrosslinking non-canonical amino acids using genetic code expansion. This approach enables site-specific capture of transient PPIs in living cells, revealing how different NR2F1 variants influence clinical manifestations. We highlight key discoveries on NR2F1 interactions and share practical experiences in using GCE to study PPIs in genetic diseases.