Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic.

Rare movement disorders often have a genetic etiology. New technological advances have increased the odds of achieving genetic diagnoses: next-generation sequencing (NGS) (whole-exome sequencing-WES; whole-genome sequencing-WGS) and long-read sequencing (LRS). In 2017, we launched a WES program for patients with rare movement disorders of suspected genetic etiology.

Origin stories: how does learned migratory behaviour arise in populations?

Although decades of research have deepened our understanding of the proximate triggers and ultimate drivers of migrations for a range of taxa, how populations establish migrations remains a mystery. However, recent studies have begun to illuminate the interplay between genetically inherited and learned migrations, opening the door to the evaluation of how migration may be learned, established, and maintained. Nevertheless, for migratory species where the role of learning is evident, we lack a comprehensive framework for understanding how populations learn specific routes and refine migratory movements over time (i.

Drug Discovery for Diseases with High Unmet Need Through Perturbation of Biomolecular Condensates.

Biomolecular condensates (BMCs), play significant roles in organizing cellular functions in the absence of membranes through phase separation events involving RNA, proteins, and RNA-protein complexes. These membrane-less organelles form dynamic multivalent weak interactions, often involving intrinsically disordered proteins or regions (IDPs/IDRs). However, the nature of these crucial interactions, how most of these organelles are organized and are functional, remains unknown.

Resolving 'vascular parkinsonism' -COL22A1 as a genetic adult-onset leukoencephalopathy.

We describe an elderly woman meeting criteria for vascular parkinsonism/dementia associated with a likely pathogenic variant in the COL22A1 gene, supported by functional experiments in a zebrafish model. We suggest that white matter hyperintensities may not represent small-vessel ischemic disease and that, if confirmed by further observations, COL22A1 may be included among the adult-onset leukoencephalopathies mislabeled as "vascular parkinsonism."