Amyotrophic lateral sclerosis: An emerging era of collaboratie gene discovery

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 CwikStephen S. Rich, Andrew Singleton, Larry Refolo, Jaime Andrews, Ran Zhang, Robin Conwit, Margaret A. Keller, Catherine Lomen-Hoerth, Zachary Simmons, Daniel S. Newman, Richard J. Barohn, Brian Crum, J. Clarke Stevens, Ericka P. Simpson, Kevin B. Boylan, Leo McCluskey, Richard S. Bedlack, E. Peter Bosch, Paul E. Barkhaus, Allitia Dibernardo, James B. Caress, David Lacomis, Alan Pestronk, Jeremy M. Shefner, Nicholas J. Maragakis, Daragh Heitzman, Kimberly L. Goslin, Carlayne E. Jackson, Jonathan D. Glass, Tahseen Mozaffar, Tulio E. Bertorini, David A. Chad, Jaya R. Trivedi, Kourosh Rezania, Terry D. Heiman-Patterson, Laurie Gutmann, Jeffery Rosenfeld, Benjamin R. Brooks, Ghazala Hayat, John E. Chapin, Stacy A. Rudnicki, Yadollah Harati, Sandeep S. Rana, Ashok Verma, James A. Russell, Erik P. Pioro, Charles A. Thornton, Laura Sams, John Kelly, Elham Bayat, Praful M. Kelkar, Ezzatollah T. Shivapour, Stephen N. Scelsa, David Walk, Amanda C. Peltier, George Sachs, Jerry M. Belsh, Michael C. Graves, Nimish J. Thakore, Harris T. Brent, Charles Cho, James P. Wymer, Jau Shin Lou, Michael D. Weiss, Gregory S. Carter, Carmel Armon, Thomas R. Vidic, Mark B. Bromberg, Dale J. Lange

Research output: Contribution to journalArticle

15 Scopus citations

Abstract

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.

Original languageEnglish (US)
Article numbere1254
JournalPloS one
Volume2
Issue number12
DOIs
StatePublished - Dec 5 2007
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Agricultural and Biological Sciences(all)
  • General

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    Gwinn, K., Corriveau, R. A., Mitsumoto, H., Bednarz, K., Brown, R. H., Cudkowicz, M., Gordon, P. H., Hardy, J., Kasarskis, E. J., Kaufmann, P., Miller, R., Sorenson, E., Tandan, R., Traynor, B. J., Nash, J., Sherman, A., Mailman, M. D., Ostell, J., Bruijn, L., ... Lange, D. J. (2007). Amyotrophic lateral sclerosis: An emerging era of collaboratie gene discovery. PloS one, 2(12), [e1254]. https://doi.org/10.1371/journal.pone.0001254