Dear Colleagues,

A major challenge in the post-genome wide association study (GWAS) era of age-related neurodegenerative diseases (NDDs), including late-onset Alzheimer’s disease (LOAD) and Parkinson’s disease (PD), is progressing from the identified genetic associations to disease mechanism. It has been over a decade since LOAD- and PD-GWAS studies first emerged. However, the actual genes involved in the disease, the causal variants, and the molecular mechanism by which they exert their pathogenic effect remain largely unknown. Most disease-associated SNPs are in noncoding regions, which are likely impacting disease-relevant brain regulatory elements that control expression of disease risk genes. Current studies aim to untangle the genetic complexity and genomic architecture of NDDs and to translate genetic association discoveries to causal mechanisms of disease. These studies integrate characterization of human brain tissues, in silico, in vitro, and in vivo approaches. Advancing the understanding of NDDs’ genetic complexity and deciphering the regulatory elements and the corresponding genes mediating NDD risk will be translational by refining polygenic risk scores (PRS) based on functional data and identifying novel therapeutic targets for these devastating diseases which manipulate dysregulated genes. 

The topics we would like to cover include but are not limited to:

• Whole genome multi-omics profiling of disease and healthy brains;
• GWAS for disease endophenotypes;
• Mechanistic insight into the function of disease-established key genes including: APOE, SNCA, LRRK2;
• Development of animal models;
• Establishment of hiPSC-derived models;
• Construction of PRS and PHS;
• Gene therapy appraoches such as ASO and genome editting.

Prof. Ornit Chiba-Falek
Dr. Boris Kantor
Guest Editors

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• Alzheimer’s
• Parkinson’s
• Multi-omics profiling
• hiPSC
• Animal models
• Neurodegeneration
• Gene therapy
• Polygenic risk scores and polygenic hazards scores