AT-Rich Repeat Expansions in Familial Adult Myoclonic Epilepsy: Size Matters!

Dr. Mark Corbett, University of Adelaide, Australia studies genes involved in familial adult myoclonic epilepsy (FAME), which is a disease characterized by hand tremors and epilepsy. Dr. Corbett shows how a single Saphyr experiment would have identified the gene that causes this disease, which took him over a decade with other technologies.