Our congratulations to Dr. Michael Zech, from the Institute of Human Genetics, Technical University of Munich and the Institute of Neurogenomics, Helmholtz Zentrum München, in Munich, Germany and the David Marsden Award 2023 for his paper:
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement
On Saturday Dr. Zech was presented with the award by Dystonia Europe Executive Director Monika Benson at the Basal Ganglia Session at the 9th EAN (European Academy of Neurology) Congress in Budapest, Hungary. Dr Zech expressed his thanks to Dystonia Europe for the award and then presented the work of his research.
About the winner:
Dr Zech completed his studies in Medicine at the Technical University of Munich, Germany, following internships at the University of Zurich, Switzerland, and Cornell University New York, USA. Dr Zech is a board-certified neurologist and received research fellowships to investigate the genetic underpinnings of neurological disorders at Helmholtz Center Munich, Germany. His work focusses on the genetics of movement disorders, especially dystonia. He was a guest researcher at the Department of Neurology and Neurological Sciences of Stanford University School of Medicine, USA, and has obtained a specialization in Human Genetics.
About the research:
The awarded paper reports the discovery of a new hereditary form of dystonia. Despite successes in the identification of dystonia-causal gene defects in recent years, one of the great challenges in dystonia research is to understand the full spectrum of genetic causes for the disease. Still, more than 90% of affected persons with isolated dystonia remain undiagnosed after maximal genetic investigation. By worldwide collaboration, Zech and colleagues found that mutations in a gene named AOPEP represent a comparatively frequent cause of recessively inherited isolated dystonia in different populations. AOPEP-related dystonia is characterized by focal, multifocal, or generalized distribution of symptoms, and shows a wide range of onset ages (childhood to late adulthood). The discovery opens news avenues into the study of underlying molecular determinants of dystonia, potentially advancing a better understanding of converging disease pathways. Moreover, the finding helped to provide improved accurate diagnoses to affected patients and families, with implications for counseling and clinical management. The study highlights that international collaborative efforts in the field are essential to promote gene discovery and more efficient research for dystonia.