What we Know and Don’t Know About PSP & CBD Genetics
Gerard Schellenberg, PhD, Penn Neurodegeneration Genomics Center
- Human disease genetics
- Study human disease mechanisms directly in humans
- Prediction – Because there’s no treatment, we can use this when we have preventative therapies
- Mechanism
- Drug targets – Going from a gene to a drug target (finding a cure)
- Does this work?
- PCSK9 drug for CAD → protective loss-of-function mutations
- If we reduce PCSK9, we reduce risk
- Approved drug came from this trial
- Can also help with preventative drugs in the future
- MAPTau mutations
- If you biochemically change tau, you make tangles
- PSP GWAS –
- Effects 4 genes including MAPT, MOBP, EIF2AK3, and STX6
- MAPT encodes tau – protein in neurofibrillary tangles
- PSP genetics
- GWAS array data
- Whole exome sequence data
- Whole genome sequence data
- Imputed genotypes
- Genetic testing is extremely expensive