Juliane Winkelmann is Director of the Institute of Human Genetics at the Technical University Munich (TUM) and Neurogenomics at Helmholtz Munich. Her research focuses on the genetic architecture and underlying molecular mechanisms of complex genetic neurological disorders and rare diseases with a focus on movement and sleep disorders. Winkelmann and her team have made primary discoveries of genetic variants for common neurological disorders, including Restless legs syndrome and rare disorders such as Dystonia.

She was a Professor of Neurology and Neuroscience at Stanford University in California before being appointed Chair of Neurogenetics at TUM in 2015 and Chair of Human Genetics in 2023. Since 2017, she has been Senior Vice President of International Alliances and Alumni at TUM. She has received international awards for her research in genomics, including the Outstanding Scientific Achievement Award from the American Sleep Research Society and the Sleep Science Award from the American Academy of Neurology. She is a member of the German National Academy of Science Leopoldina.

Restless Legs Syndrome insights into genetic architecture, disease biology, and risk prediction

Restless legs syndrome (RLS) is a common disorder and affects up to 10% of older adults with variable expressivity. The healthcare of the patients is impeded by delayed diagnosis and insufficient treatment. To advance disease prediction and identify new entry points for therapy, we performed meta-analyses of genome-wide association studies in > 110.000 patients with RLS and >1,500,000 controls of European ancestry, increasing the number of risk loci eightfold to 164, including three on chromosome X. Mendelian randomization indicated RLS as a causal risk factor for diabetes. Machine learning approaches combining genetic and nongenetic information performed best in risk prediction. Functional data provides insights into our understanding of RLS being a neurodevelopmental disorder. New targets for drug development and possibilities for repurposing provide new opportunities for the affected individuals.