Genetic Modifiers in Genetic ALS and FTD
Jolien Perneel discusses genetic modifiers in genetic ALS and FTD
Researcher Jolien Perneel , PhD Candidate working in renowned Genetic FTD researcher Prof. Rosa Rademakers lab, presented on findings related to genes people may have in addition to ALS / FTD genetic mutations that could alter the risk of developing disease.
Topics: What do we do in our lab? What are modifiers/risk factors and why are they important? How do we follow-up genetic findings in the lab? How do we use your/your relatives samples to increase disease insight? Why is participation in research studies important - also for asymptomatic/presymptomatic carriers? What did we learn already?
This would focus on the genetics of TMEM106B and will also cover its function in the cell and in the brain with specific examples of how it relates to progranulin and C9Orf72.