Amyotrophic Lateral Sclerosis: An Emerging Era of Collaborative Gene Discovery

作者：Gwinn Katrina^*; Corriveau Roderick A; Mitsumoto Hiroshi; Bednarz Kate; Brown Robert H Jr; Cudkowicz Merit; Gordon Paul H; Hardy John; Kasarskis Edward J; Kaufmann Petra; Miller Robert; Sorenson Eric; Tandan Rup; Traynor Bryan J; Nash Josefina; Sherman Alex; Mailman Matthew D; Ostell James; Bruijn Lucie; Cwik Valerie; Rich Stephen S; Singleton Andrew; Refolo Larry; Andrews Jaime; Zhang Ran; Conwit Robin; Keller Margaret A

来源：PLos One, 2007, 2(12): e1254.

DOI：10.1371/journal.pone.0001254

Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease (MND). It is currently incurable and treatment is largely limited to supportive care. Family history is associated with an increased risk of ALS, and many Mendelian causes have been discovered. However, most forms of the disease are not obviously familial. Recent advances in human genetics have enabled genome-wide analyses of single nucleotide polymorphisms ( SNPs) that make it possible to study complex genetic contributions to human disease. Genome-wide SNP analyses require a large sample size and thus depend upon collaborative efforts to collect and manage the biological samples and corresponding data. Public availability of biological samples ( such as DNA), phenotypic and genotypic data further enhances research endeavors. Here we discuss a large collaboration among academic investigators, government, and non-government organizations which has created a public repository of human DNA, immortalized cell lines, and clinical data to further gene discovery in ALS. This resource currently maintains samples and associated phenotypic data from 2332 MND subjects and 4692 controls. This resource should facilitate genetic discoveries which we anticipate will ultimately provide a better understanding of the biological mechanisms of neurodegeneration in ALS.

• 出版日期2007-12-5
• 单位上海生物信息技术研究中心; 河北医科大学