Dissecting the Genetic Underpinnings of Essential Tremor. Homo sapiens

The aim of this study is to gain insights into the etiology and treatment of essential tremor (ET), which remain poorly understood, by determining novel gene mutations and genomic events underlying and contributing to pure and complex ET. ET is one of the most common neurological diseases in adult life, with a prevalence increasing steadily with age. A prompt diagnosis and an appropriate treatment are critical for delaying or preventing the functional disability that often makes ET patients lose their jobs and face financial and other difficulties. However, treatments are limited and, even though ~ 50% of ET is hereditary, conventional linkage analyses have failed to identify causal genes for ET. On the other hand, both whole exome sequencing (WES) and whole genome sequencing (WGS) are dramatically accelerating the field of biomedical research and have become fruitful strategies for gene identification. More recently, WGS has been shown to detect genetic... (for more see dbGaP study page.)