Biallelic genes, on the other hand, are much more evolutionarily conserved and are more likely to be associated with cell survival, Gregg explains, meaning they’re less likely to tolerate mutations.

More information: Francesco Saettini et al, Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia, Journal of Clinical Immunology (2024). DOI ...

The disease is typically caused by biallelic mutations in genes (branched-chain α-ketoacid dehydrogenase E1α (BCKDHA), E1β (BCKDHB), or dihydrolipoamide branched-chain transacylase (DBT ...

d, Biallelic silencing of both gene copies without LOH or gene mutation. e,f, Haploinsufficient tumor-suppressor genes do not need to lose both functional copies to confer increased risk.

LUXTURNA has significant market potential due to the high unmet need for effective treatments in rare genetic conditions. With its FDA approval for specific mutations in the RPE65 gene, it offers ...