Identifying Protective Variants in Neurodegeneration with the UK Biobank: Expanding Insights to ALS, FTD, Spinocerebellar Ataxia & Beyond for More Effective Drug Development
Time: 1:00 pm
day: Conference Day One Track A PM
Details:
- Harnessing whole exome and whole genome sequencing to identify protective/rare variants and their subsequent prioritization
- Exploring the influence of causal variants in the context of mutations in the rest of the genome (epistasis and penetrance)
- Taking learnings from Spinocerebellar Ataxia omics to further differentiate disease and stratify patient subgroups with different pathologies
- Identifying subgroups based on comorbidities and diagnosis using examples from the UK biobank
