Detection of Familial Adult Myoclonic Epilepsy Type 3 (FAME3) Repeat Expansion Using Optical Genome Mapping

Dr. Christel Depienne studies genes involved in familial adult myoclonic epilepsy (FAME), which is a disease characterized by hand tremors and epilepsy. Dr. Depienne identified the very long pathogenic expansions and concluded that Saphyr allows for the study of the many of parts of the genome that contain repeats and couldn’t be assessed until now.