Dementia and Movement Disorders: Integrated Genetic Insights and Advanced Diagnostic Approaches

Dementia and movement disorders, including Alzheimer's disease, Parkinson's disease, Huntington's disease, and various forms of dystonia and ataxia, lead to substantial cognitive and motor impairments, posing significant clinical and societal challenges. These disorders, characterized by abnormal neuronal activity, result in profound cognitive decline and movement abnormalities. Recent breakthroughs in genetic research have shed light on the intricate molecular mechanisms underlying these conditions, offering novel insights into their etiology and progression. This research topic aims to tightly integrate the study of dementia with movement disorders, focusing on the genetic underpinnings that drive these diseases, aiming to elucidate the shared and distinct genetic pathways influencing cognition and motor control.

Research Emphasis:

• Genomic and Epigenomic Profiling:
Comprehensive genomic and epigenomic analyses to identify alterations influencing both cognitive decline and movement dysfunction.
Detailed characterization of disease-associated genetic variants and epigenetic modifications across dementia and movement disorders.
Functional annotation of non-coding regions, assessing their roles in susceptibility across both spectrums of these disorders.

• Gene-Environment Interactions:
Assessment of environmental impacts on genetic predispositions common to both dementia and movement disorders.
Investigations into how lifestyle, diet, and environmental toxins influence gene expression, impacting the progression of cognitive and motor symptoms.

• Pathway Analysis and Mechanistic Studies:
Investigation into the molecular pathways that are pivotal in the dysfunction of motor circuits as well as cognitive decline, particularly focusing on the basal ganglia and cerebellar pathways.
Use of iPSC-derived neurons and animal models to validate the role of genetic variants and study gene-function interactions in both dementia and movement disorders.

• Biomarker Discovery and Translational Research:
Identification and validation of genetic biomarkers that can predict and monitor the course of dementia and movement disorders, facilitating early diagnosis.
Development of genomic-based predictive models to assess risks and progression in patients.