Gwinn, K;
Corriveau, RA;
Mitsumoto, H;
Bednarz, K;
Jr, BRH;
Cudkowicz, M;
Gordon, PH;
... Grp, ALSR; + view all
(2007)
Amyotrophic Lateral Sclerosis: An Emerging Era of Collaborative Gene Discovery.
PLOS ONE
, 2
(12)
, Article e1254. 10.1371/journal.pone.0001254.
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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.
| Type: | Article |
|---|---|
| Title: | Amyotrophic Lateral Sclerosis: An Emerging Era of Collaborative Gene Discovery |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1371/journal.pone.0001254 |
| Publisher version: | http://dx.doi.org/10.1371/journal.pone.0001254 |
| Language: | English |
| Additional information: | This is an open-access article distributed under the terms of the Creative Commons Public Domain declaration which stipulates that, once placed in the public domain, this work may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work described herein was created with funding by NINDS (RAC, JN, JA, MK, Repository, Contract NINDS N01-NS-2-2349, NINDS Supplement Notice NOT-03-016), The ALS Association, NINDS R01 grants (RHB, R01 NS049640-01; MC, R01 NS049640-01; PHG R01 NS045294-01; EK R01 NS045087-01; PK R01 NS048125-01; RM R01 NS044887-01; ES R01 NS042759-01), NIA Intramural Laboratory of Neurogenetics, (JH, AS), NIMH Intramural (BT), NIH RR-00109 (RT), and NCBI dbGaP (http://www.ncbi.nlm.nih.gov/sites/entrezdbgap). |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1357248 |
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