Collaborative Genomics for Dystonia in Central and Eastern Europe: Successes Achieved, New Frontiers Ahead

Jech R, Havránková P, Tsoma E, Kunc L, Krajča T, Necpál J, Ulmanová O, Tomic A, Dzinovic I, Rektorová I, Baláž M, Serranová T, Jaselska S, Giertlova M, Kulcsarova K, Lackova A, Harvanova D, Ostrozovicova M, Han V; GenDy
Collaborators; Škorvánek M, Zech M.

Mov Disord. 2026 Apr 2. doi: 10.1002/mds.70300. Epub ahead of print. PMID: 41927493.

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21 Apr 2026

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The application and clinical utility of genomic analyses are well established in the field of movement disorders, where high-throughput molecular tests have revolutionized the rate, speed, and precision of diagnosis.1 Nevertheless, there is a wide appreciation of inequitable access to genomic programs with maldistribution of enrollment into precision-medicine studies for individuals living with a movement disorder in “underrepresented” geographical regions.2-4 Although successes in diversifying cohorts and overcoming diagnostic disparities have been shown for some forms of movement disorders, most notably for Parkinson's disease,56 significant room for improvement of inclusion and investigation remains for other patient groups, such as individuals with dystonia. Lim and colleagues7 recently proposed a seminal definition of underrepresented populations in genomic research, highlighting patients from Eastern European countries as an important portion of underserved individuals who face barriers to systematic genetic characterization. The investigation of the impact of state-of-the-art genomic testing approaches in such disadvantaged populations has often started to focus on more common conditions, exacerbating the issue of underrepresentation of patients with rare genetic dystonias from these regions.7 In this Viewpoint article, we aim to summarize our experiences in building a roadmap for narrowing disparities in genomic research among dystonia-affected individuals from underrepresented European countries. Through the perspective of the “Mapping Genomic Diversity of Dystonia in Central and Eastern Europe” (GenDy) project, we report accomplishments and provide examples on a 10-year timescale,8-10 fostering more equitable advantages from genomics for diverse patients with dystonia.


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