Professor of Human Genetics and Professor of Neurology, University of Michigan
Miriam Meisler, Ph. D., is Professor of Human Genetics and Neurology at the University of Michigan. Her research programme is focused on rare genetic disorders, with an emphasis on gene discovery and disease mechanisms. She identified the mouse SCN8A gene in 1995 and has studied several spontaneous mouse mutations that cause movement and behavioural disorders. In 2012, she collaborated with Michael Hammer to characterize the first patient mutation in SCN8A encephalopathy, N1768D. She has investigated the effects of ten patient mutations on the function of the sodium channel gene, describing gain-of-function effects that produce an over-active channel. Her laboratory has generated two mouse models of SCN8A encephalopathy with patient mutations N1768D and R1872W. Activation of the SCN8A mutation specifically in the excitatory neurons of the forebrain is sufficient to cause seizures in the mice. Most recently, her laboratory is testing anti-sense oligonucleotides (ASOs) as a treatment to reduce the expression of the SCN8A gene and prevent seizures.
Recent review article: Meisler, Hill and Yu (2021) Nature Reviews Neuroscience.