Michael Zech Awarded for Discovering New Hereditary Form of Dystonia
Dr. Michael Zech received the David Marsden Award 2023 from Dystonia Europe at the 9th EAN Congress in Budapest, Hungary. The award recognizes his groundbreaking research on the genetics of movement disorders, particularly dystonia.
Michael Zech is a neurologist and geneticist working at the Institute of Neurogenomics at Helmholtz Munich and at the Institute of Human Genetics at the Technical University of Munich (TUM). He has been recently awarded the David Marsden Award 2023 for his publication documenting the discovery of a new hereditary form of dystonia, a neurological movement disorder characterized by involuntary twisting postures and repetitive movements.
Despite recent progress in identifying genetic causes of dystonia, there remains a challenge in fully understanding the complete spectrum of genetic factors underlying the disease. More than 90% of individuals affected with isolated dystonia remain undiagnosed even after extensive genetic investigations. Through international collaboration, Michael Zech and his colleagues found that mutations in the aminopeptidase O (AOPEP) gene were a relatively common cause of recessively inherited isolated dystonia across different populations. AOPEP-related dystonia manifests with focal, multifocal, or generalized symptoms and can occur at various ages, from childhood to late adulthood. This groundbreaking discovery opens new avenues for exploring the molecular determinants of dystonia, leading to a better understanding of the disease pathways. Moreover, the finding has enabled more accurate diagnoses for affected patients and families, with significant implications for counseling and clinical management.
At the Institute of Neurogenomics at Helmholtz Munich, specifically in the Precision Neuromedicine lab, where Michael Zech conducts his research, scientists strive to unravel the genetic architecture of diseases, driving the progress of precision medicine. Through their investigations into genetic variants, they shed light on the underlying molecular mechanisms that contribute to disease susceptibility. Michael Zech's award-winning findings make a significant and valuable contribution to the research area of rare disease genomics and diagnostics.
About the scientist
Dr. Michael Zech, senior scientist at the Institute of Neurogenomics at the Helmholtz Munich Computational Health Center and at the Institute of Human Genetics at the Technical University of Munich (TUM)
Check out his awarded publication: Zech et al. (2022): Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement. Movement Disorders. DOI: 10.1002/mds.28804
About the award
The David Marsden Award, established by Dystonia Europe in 2003, recognizes the significant contributions of Prof. Marsden to the field of dystonia research and honors his efforts in improving the lives of individuals affected by the condition. The award, supported by Dystonia Europe, aims to foster research and awareness by encouraging publications on topics such as the causes, mechanisms, diagnosis, or psychosocial impacts of dystonia.