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

Research output: Contribution to journalArticle

15 Citations (Scopus)

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

Fingerprint

Amyotrophic Lateral Sclerosis
Genetic Association Studies
Genes
Motor Neuron Disease
motor neurons
Polymorphism
single nucleotide polymorphism
Neurons
Single Nucleotide Polymorphism
genes
Nucleotides
Genome
sampling
genome
DNA
Medical Genetics
human diseases
Sample Size
Biological Availability
Cells

Cite this

Gwinn, K., Corriveau, R. A., Mitsumoto, H., Bednarz, K., Brown, R. H., Cudkowicz, M., ... Mozaffar, T. (2007). Amyotrophic lateral sclerosis: An emerging era of collaboratie gene discovery. PloS one, 2(12), [e1254]. https://doi.org/10.1371/journal.pone.0001254

Amyotrophic lateral sclerosis : An emerging era of collaboratie gene discovery. / Gwinn, Katrina; Corriveau, Roderick A.; Mitsumoto, Hiroshi; Bednarz, Kate; Brown, Robert H.; 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.; Lomen-Hoerth, Catherine; Simmons, Zachary; Newman, Daniel S.; Barohn, Richard J.; Crum, Brian; Stevens, J. Clarke; Simpson, Ericka P.; Boylan, Kevin B.; McCluskey, Leo; Bedlack, Richard S.; Bosch, E. Peter; Barkhaus, Paul E.; Dibernardo, Allitia; Caress, James B.; Lacomis, David; Pestronk, Alan; Shefner, Jeremy M.; Maragakis, Nicholas J.; Heitzman, Daragh; Goslin, Kimberly L.; Jackson, Carlayne E.; Glass, Jonathan D.; Mozaffar, Tahseen.

In: PloS one, Vol. 2, No. 12, e1254, 05.12.2007.

Research output: Contribution to journalArticle

Gwinn, K, Corriveau, RA, Mitsumoto, H, Bednarz, K, Brown, RH, Cudkowicz, M, Gordon, PH, Hardy, J, Kasarskis, EJ, Kaufmann, P, Miller, R, Sorenson, E, Tandan, R, Traynor, BJ, Nash, J, Sherman, A, Mailman, MD, Ostell, J, Bruijn, L, Cwik, V, Rich, SS, Singleton, A, Refolo, L, Andrews, J, Zhang, R, Conwit, R, Keller, MA, Lomen-Hoerth, C, Simmons, Z, Newman, DS, Barohn, RJ, Crum, B, Stevens, JC, Simpson, EP, Boylan, KB, McCluskey, L, Bedlack, RS, Bosch, EP, Barkhaus, PE, Dibernardo, A, Caress, JB, Lacomis, D, Pestronk, A, Shefner, JM, Maragakis, NJ, Heitzman, D, Goslin, KL, Jackson, CE, Glass, JD & Mozaffar, T 2007, 'Amyotrophic lateral sclerosis: An emerging era of collaboratie gene discovery', PloS one, vol. 2, no. 12, e1254. https://doi.org/10.1371/journal.pone.0001254
Gwinn K, Corriveau RA, Mitsumoto H, Bednarz K, Brown RH, Cudkowicz M et al. Amyotrophic lateral sclerosis: An emerging era of collaboratie gene discovery. PloS one. 2007 Dec 5;2(12). e1254. https://doi.org/10.1371/journal.pone.0001254
Gwinn, Katrina ; Corriveau, Roderick A. ; Mitsumoto, Hiroshi ; Bednarz, Kate ; Brown, Robert H. ; 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. ; Lomen-Hoerth, Catherine ; Simmons, Zachary ; Newman, Daniel S. ; Barohn, Richard J. ; Crum, Brian ; Stevens, J. Clarke ; Simpson, Ericka P. ; Boylan, Kevin B. ; McCluskey, Leo ; Bedlack, Richard S. ; Bosch, E. Peter ; Barkhaus, Paul E. ; Dibernardo, Allitia ; Caress, James B. ; Lacomis, David ; Pestronk, Alan ; Shefner, Jeremy M. ; Maragakis, Nicholas J. ; Heitzman, Daragh ; Goslin, Kimberly L. ; Jackson, Carlayne E. ; Glass, Jonathan D. ; Mozaffar, Tahseen. / Amyotrophic lateral sclerosis : An emerging era of collaboratie gene discovery. In: PloS one. 2007 ; Vol. 2, No. 12.
@article{2f2b8da224a142a591ab6382364f8e23,
title = "Amyotrophic lateral sclerosis: An emerging era of collaboratie gene discovery",
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.",
author = "Katrina Gwinn and Corriveau, {Roderick A.} and Hiroshi Mitsumoto and Kate Bednarz and Brown, {Robert H.} and Merit Cudkowicz and Gordon, {Paul H.} and John Hardy and Kasarskis, {Edward J.} and Petra Kaufmann and Robert Miller and Eric Sorenson and Rup Tandan and Traynor, {Bryan J.} and Josefina Nash and Alex Sherman and Mailman, {Matthew D.} and James Ostell and Lucie Bruijn and Valerie Cwik and Rich, {Stephen S.} and Andrew Singleton and Larry Refolo and Jaime Andrews and Ran Zhang and Robin Conwit and Keller, {Margaret A.} and Catherine Lomen-Hoerth and Zachary Simmons and Newman, {Daniel S.} and Barohn, {Richard J.} and Brian Crum and Stevens, {J. Clarke} and Simpson, {Ericka P.} and Boylan, {Kevin B.} and Leo McCluskey and Bedlack, {Richard S.} and Bosch, {E. Peter} and Barkhaus, {Paul E.} and Allitia Dibernardo and Caress, {James B.} and David Lacomis and Alan Pestronk and Shefner, {Jeremy M.} and Maragakis, {Nicholas J.} and Daragh Heitzman and Goslin, {Kimberly L.} and Jackson, {Carlayne E.} and Glass, {Jonathan D.} and Tahseen Mozaffar",
year = "2007",
month = "12",
day = "5",
doi = "10.1371/journal.pone.0001254",
language = "English (US)",
volume = "2",
journal = "PLoS One",
issn = "1932-6203",
publisher = "Public Library of Science",
number = "12",

}

TY - JOUR

T1 - Amyotrophic lateral sclerosis

T2 - An emerging era of collaboratie gene discovery

AU - Gwinn, Katrina

AU - Corriveau, Roderick A.

AU - Mitsumoto, Hiroshi

AU - Bednarz, Kate

AU - Brown, Robert H.

AU - Cudkowicz, Merit

AU - Gordon, Paul H.

AU - Hardy, John

AU - Kasarskis, Edward J.

AU - Kaufmann, Petra

AU - Miller, Robert

AU - Sorenson, Eric

AU - Tandan, Rup

AU - Traynor, Bryan J.

AU - Nash, Josefina

AU - Sherman, Alex

AU - Mailman, Matthew D.

AU - Ostell, James

AU - Bruijn, Lucie

AU - Cwik, Valerie

AU - Rich, Stephen S.

AU - Singleton, Andrew

AU - Refolo, Larry

AU - Andrews, Jaime

AU - Zhang, Ran

AU - Conwit, Robin

AU - Keller, Margaret A.

AU - Lomen-Hoerth, Catherine

AU - Simmons, Zachary

AU - Newman, Daniel S.

AU - Barohn, Richard J.

AU - Crum, Brian

AU - Stevens, J. Clarke

AU - Simpson, Ericka P.

AU - Boylan, Kevin B.

AU - McCluskey, Leo

AU - Bedlack, Richard S.

AU - Bosch, E. Peter

AU - Barkhaus, Paul E.

AU - Dibernardo, Allitia

AU - Caress, James B.

AU - Lacomis, David

AU - Pestronk, Alan

AU - Shefner, Jeremy M.

AU - Maragakis, Nicholas J.

AU - Heitzman, Daragh

AU - Goslin, Kimberly L.

AU - Jackson, Carlayne E.

AU - Glass, Jonathan D.

AU - Mozaffar, Tahseen

PY - 2007/12/5

Y1 - 2007/12/5

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=41649087062&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=41649087062&partnerID=8YFLogxK

U2 - 10.1371/journal.pone.0001254

DO - 10.1371/journal.pone.0001254

M3 - Article

C2 - 18060051

AN - SCOPUS:41649087062

VL - 2

JO - PLoS One

JF - PLoS One

SN - 1932-6203

IS - 12

M1 - e1254

ER -