The Evolution of Genetics: Alzheimer's and Parkinson's Diseases

Genetic discoveries underlie the majority of the current thinking in neurodegenerative disease. This work has been driven by the significant gains made in identifying causal mutations; however, the translation of genetic causes of disease into pathobiological understanding remains a challenge. The a...

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Bibliographic Details
Published in:Neuron (Cambridge, Mass.) Vol. 90; no. 6; pp. 1154 - 1163
Main Authors: Singleton, Andrew, Hardy, John
Format: Journal Article
Language:English
Published: United States 15.06.2016
Subjects:
Alzheimer Disease - genetics
Genetic Predisposition to Disease - genetics
Genetics, Medical - trends
Humans
Mutation
Parkinson Disease - genetics
Research Design - trends
Genetics
Alzheimer’s disease
Genome-wide association
Parkinson’s disease
Exome sequencing
ISSN:1097-4199
Online Access:Get more information
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Summary:Genetic discoveries underlie the majority of the current thinking in neurodegenerative disease. This work has been driven by the significant gains made in identifying causal mutations; however, the translation of genetic causes of disease into pathobiological understanding remains a challenge. The application of a second generation of genetics methods allows the dissection of moderate and mild genetic risk factors for disease. This requires new thinking in two key areas: what constitutes proof of pathogenicity, and how do we translate these findings to biological understanding. Here we describe the progress and ongoing evolution in genetics. We describe a view that rejects the tradition that genetic proof has to be absolute before functional characterization and centers on a multi-dimensional approach integrating genetics, reference data, and functional work. We also argue that these challenges cannot be efficiently met by traditional hypothesis-driven methods but that high content system-wide efforts are required.
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ISSN:1097-4199
DOI:10.1016/j.neuron.2016.05.040