Co-lead, Monogenic Disease
Niccolo Mencacci, MD, PhD
Niccolo received his medical degree in 2006 and completed his residency in Neurology in 2012 at the University of Milan, Italy. He then joined the Department of Molecular Neuroscience, University College London, UK, where he conducted his research under the supervision of John Hardy and Nick Wood. During these years Niccolo became proficient in the application of a variety of genetic techniques, including genome-wide genotyping, homozygosity mapping, linkage and exome sequencing analysis. Through the application of these techniques and building up a close collaboration between the Queen Square movement disorders clinical team and the lab, he successfully identified several novel genetic causes of movement disorders, including Parkinson’s disease, dystonia and choreic syndromes. He was awarded his PhD in July 2016. Shortly afterward, he joined as faculty Northwestern University in Chicago, where he is currently conducting his research. In 2017, Niccolo was awarded the prestigious David Marsden Award for his paper “A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia”. He serves as member of the medical and scientific advisory committee for the Dystonia Medical Research Foundation and member of the editorial board of the journal Parkinsonism and Related Disorders.