The genomic architecture of neurodegenerative diseases

The genomic architecture of neurodegenerative diseases

Jose Bras, PhD, Proleptic Lecturer and Alzheimer’s Society Research Fellow, University College London Institute of Neurology
Topic: 

Our understanding of the genetic basis of neurodegenerative diseases has grown considerably in the past decade. This was driven in large part by advances in technology that have ultimately allowed us to look at complete genomes with single base-pair resolution. A wide range of neurodegenerative diseases has benefited from these advances, with Alzheimer’s and Parkinson’s diseases being no exception. We have identified several disease causing mutations and variants that modulate risk for disease onset. These have informed us not only about genes involved in these diseases, but also about biological pathways we now know are altered in disease. Additionally, we have also been able to compare and contrast the genetic basis of these diseases. This has been tremendously informative, with diseases such as dementia with Lewy bodies showing genetic correlations with both Alzheimer’s and Parkinson’s, without these having any correlation between them.

We are now much closer to have a complete understanding of the genetic underpinnings of common forms of neurodegenerative diseases. Technology will continue to play an important role in the future as the questions we ask evolve based on the data we generate.



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