PerspectiveGenetics

A Unified Process for Neurological Disease

Science  31 Jan 2014:
Vol. 343, Issue 6170, pp. 497-498
DOI: 10.1126/science.1250172

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Summary

The perennial promise of human disease genetics is the delivery of etiology-based therapies. This rests on the notion that identifying disease-causing mutations will provide a basis for determining the molecular networks that constitute the disease process—an understanding that is critical for the development of such therapies. On page 506 of this issue, Novarino et al. (1) perform what is perhaps the most complete genetic analysis of the neurological disorder hereditary spastic paraplegia (HSP), and deliver on part of this promise by creating an “HSPome,” a plausible network of proteins involved in this disease.