Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery.
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...
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2007
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oai:doaj.org-article:810eaf8daa3c4dc8ab0673f7e64b23f92021-11-25T06:13:45ZAmyotrophic lateral sclerosis: an emerging era of collaborative gene discovery.1932-620310.1371/journal.pone.0001254https://doaj.org/article/810eaf8daa3c4dc8ab0673f7e64b23f92007-12-01T00:00:00Zhttps://doi.org/10.1371/journal.pone.0001254https://doaj.org/toc/1932-6203Amyotrophic 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.Katrina GwinnRoderick A CorriveauHiroshi MitsumotoKate BednarzRobert H BrownMerit CudkowiczPaul H GordonJohn HardyEdward J KasarskisPetra KaufmannRobert MillerEric SorensonRup TandanBryan J TraynorJosefina NashAlex ShermanMatthew D MailmanJames OstellLucie BruijnValerie CwikStephen S RichAndrew SingletonLarry RefoloJaime AndrewsRan ZhangRobin ConwitMargaret A KellerALS Research GroupPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 2, Iss 12, p e1254 (2007) |
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Medicine R Science Q |
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Medicine R Science Q Katrina Gwinn Roderick A Corriveau Hiroshi Mitsumoto Kate Bednarz Robert H Brown Merit Cudkowicz Paul H Gordon John Hardy Edward J Kasarskis Petra Kaufmann Robert Miller Eric Sorenson Rup Tandan Bryan J Traynor Josefina Nash Alex Sherman Matthew D Mailman James Ostell Lucie Bruijn Valerie Cwik Stephen S Rich Andrew Singleton Larry Refolo Jaime Andrews Ran Zhang Robin Conwit Margaret A Keller ALS Research Group Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery. |
| description |
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. |
| format |
article |
| author |
Katrina Gwinn Roderick A Corriveau Hiroshi Mitsumoto Kate Bednarz Robert H Brown Merit Cudkowicz Paul H Gordon John Hardy Edward J Kasarskis Petra Kaufmann Robert Miller Eric Sorenson Rup Tandan Bryan J Traynor Josefina Nash Alex Sherman Matthew D Mailman James Ostell Lucie Bruijn Valerie Cwik Stephen S Rich Andrew Singleton Larry Refolo Jaime Andrews Ran Zhang Robin Conwit Margaret A Keller ALS Research Group |
| author_facet |
Katrina Gwinn Roderick A Corriveau Hiroshi Mitsumoto Kate Bednarz Robert H Brown Merit Cudkowicz Paul H Gordon John Hardy Edward J Kasarskis Petra Kaufmann Robert Miller Eric Sorenson Rup Tandan Bryan J Traynor Josefina Nash Alex Sherman Matthew D Mailman James Ostell Lucie Bruijn Valerie Cwik Stephen S Rich Andrew Singleton Larry Refolo Jaime Andrews Ran Zhang Robin Conwit Margaret A Keller ALS Research Group |
| author_sort |
Katrina Gwinn |
| title |
Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery. |
| title_short |
Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery. |
| title_full |
Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery. |
| title_fullStr |
Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery. |
| title_full_unstemmed |
Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery. |
| title_sort |
amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2007 |
| url |
https://doaj.org/article/810eaf8daa3c4dc8ab0673f7e64b23f9 |
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