Prion disease

Implications of new genetic risk factors in prion disease

A genome-wide association study has identified the first risk factors for sporadic prion disease other than mutations of PRNP, which encodes prion protein. These hits could open up new fronts in prion biology, risk prediction, and drug development.

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Correspondence to Eric Vallabh Minikel.

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Competing interests

S.M.V. has received speaking fees from Biogen and Illumina, and has received research support in the form of unrestricted charitable contributions from Charles River Laboratories and Ionis Pharmaceuticals. E.V.M. has received consulting fees from Deerfield Management and Guidepoint, and has received research support in the form of unrestricted charitable contributions from Charles River Laboratories and Ionis Pharmaceuticals.

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Vallabh, S.M., Minikel, E.V. Implications of new genetic risk factors in prion disease. Nat Rev Neurol (2020). https://doi.org/10.1038/s41582-020-00433-0

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