Should we talk about syndromes based on the gene that causes them or should we talk about them (and treat them) based on the clinical characteristics that they display? Earlier this month, the epilepsy community gathered in Barcelona for the 32nd International Epilepsy Congress and there was a debate between genetic and symptom-base syndrome classification. This debate goes beyond semantics, and has important regulatory and access implications.
The journal Nature just released one of the most anticipated breaking news of the last few years: CRISPR gene editing has been tested in a person for the first time. In my day-to-day work I interact with families that have a child with a genetic disease. I get one question a lot: how close are we to turn that discovery into a therapy for people with genetic diseases?