What is the impact of rare variants?


The impact of rare variants is significant when studying diseases such as Alzheimer's. According to , rare variants, along with common and somatic variants, contribute to genetic diversity in the brain. This diversity is crucial as it affects different brain regions and functions differently, which can significantly impact disease progression and mental functions.

Rare variants, when combined with common and somatic variants, create a complex genetic mosaic that influences how diseases like Alzheimer's progress and affect cognitive functions. emphasizes their unique effects on neuronal functions and other brain-specific processes, differing substantially from common variants. The study of these variants at the cellular level, enabled by advanced technologies like single-cell RNA sequencing, helps in understanding how these genetic variations correspond to changes in gene expression and disease manifestation 1.

Alzheimer's Intervention

Manolis discusses the computational models being created to predict Alzheimer's disease progression across different regions of the brain, allowing for early intervention and the development of new diagnostics and biomarkers. He also explores the impact of somatic variants on the brain and how they differ from common and rare genetic variants.

Lex Fridman Podcast

Manolis Kellis: Biology of Disease | Lex Fridman Podcast #133