The lupus family registry and repository

Astrid Rasmussen, Sydney Sevier, Jennifer A. Kelly, Stuart B. Glenn, Teresa Aberle, Carisa M. Cooney, Anya Grether, Ellen James, Jared Ning, Joanne Tesiram, Jean Morrisey, Tiny Powe, Mark Drexel, Wes Daniel, Bahram Namjou, Joshua O. Ojwang, Kim L. Nguyen, Joshua W. Cavett, Jeannie L. Te, Judith A. James & 22 otros R. Hal Scofield, Kathy Moser, Gary S. Gilkeson, Diane L. Kamen, Craig W. Carson, Ana I. Quintero-del-Rio, Maria del Carmen Ballesteros, Marilynn G. Punaro, David R. Karp, Daniel J. Wallace, Michael Weisman, Joan T. Merrill, Roberto Rivera, Michelle A. Petri, Daniel A. Albert, Luis R. Espinoza, Tammy O. Utset, Timothy S. Shaver, Eugene Arthur, Juan Manuel Anaya, Gail R. Bruner, John B. Harley

Resultado de la investigación: Contribución a RevistaRevisión Literaria

44 Citas (Scopus)

Resumen

The Lupus Family Registry and Repository (LFRR) was established with the goal of assembling and distributing materials and data from families with one or more living members diagnosed with SLE, in order to address SLE genetics. In the present article, we describe the problems and solutions of the registry design and biometric data gathering; the protocols implemented to guarantee data quality and protection of participant privacy and consent; and the establishment of a local and international network of collaborators. At the same time, we illustrate how the LFRR has enabled progress in lupus genetics research, answering old scientific questions while laying out new challenges in the elucidation of the biologic mechanisms that underlie disease pathogenesis. Trained staff ascertain SLE cases, unaffected family members and population-based controls, proceeding in compliance with the relevant laws and standards; participant consent and privacy are central to the LFRR's effort. Data, DNA, serum, plasma, peripheral blood and transformed B-cell lines are collected and stored, and subject to strict quality control and safety measures. Coded data and materials derived from the registry are available for approved scientific users. The LFRR has contributed to the discovery of most of the 37 genetic associations now known to contribute to lupus through 104 publications. The LFRR contains 2618 lupus cases from 1954 pedigrees that are being studied by 76 approved users and their collaborators. The registry includes difficult to obtain populations, such as multiplex pedigrees, minority patients and affected males, and constitutes the largest collection of lupus pedigrees in the world. The LFRR is a useful resource for the discovery and characterization of genetic associations in SLE. © The Author 2010. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved.
Idioma originalEnglish (US)
Páginas (desde-hasta)47-59
Número de páginas13
PublicaciónRheumatology
DOI
EstadoPublished - ene 1 2011

Huella dactilar

Registries
Pedigree
Privacy
Computer Security
Genetic Research
Transformed Cell Line
Population Control
Rheumatology
Quality Control
Publications
B-Lymphocytes
Safety
DNA
Serum
Population

Citar esto

Rasmussen, A., Sevier, S., Kelly, J. A., Glenn, S. B., Aberle, T., Cooney, C. M., ... Harley, J. B. (2011). The lupus family registry and repository. Rheumatology, 47-59. https://doi.org/10.1093/rheumatology/keq302
Rasmussen, Astrid ; Sevier, Sydney ; Kelly, Jennifer A. ; Glenn, Stuart B. ; Aberle, Teresa ; Cooney, Carisa M. ; Grether, Anya ; James, Ellen ; Ning, Jared ; Tesiram, Joanne ; Morrisey, Jean ; Powe, Tiny ; Drexel, Mark ; Daniel, Wes ; Namjou, Bahram ; Ojwang, Joshua O. ; Nguyen, Kim L. ; Cavett, Joshua W. ; Te, Jeannie L. ; James, Judith A. ; Hal Scofield, R. ; Moser, Kathy ; Gilkeson, Gary S. ; Kamen, Diane L. ; Carson, Craig W. ; Quintero-del-Rio, Ana I. ; del Carmen Ballesteros, Maria ; Punaro, Marilynn G. ; Karp, David R. ; Wallace, Daniel J. ; Weisman, Michael ; Merrill, Joan T. ; Rivera, Roberto ; Petri, Michelle A. ; Albert, Daniel A. ; Espinoza, Luis R. ; Utset, Tammy O. ; Shaver, Timothy S. ; Arthur, Eugene ; Anaya, Juan Manuel ; Bruner, Gail R. ; Harley, John B. / The lupus family registry and repository. En: Rheumatology. 2011 ; pp. 47-59.
@article{9fc79ba967ba477294bdc3b20729ce31,
title = "The lupus family registry and repository",
abstract = "The Lupus Family Registry and Repository (LFRR) was established with the goal of assembling and distributing materials and data from families with one or more living members diagnosed with SLE, in order to address SLE genetics. In the present article, we describe the problems and solutions of the registry design and biometric data gathering; the protocols implemented to guarantee data quality and protection of participant privacy and consent; and the establishment of a local and international network of collaborators. At the same time, we illustrate how the LFRR has enabled progress in lupus genetics research, answering old scientific questions while laying out new challenges in the elucidation of the biologic mechanisms that underlie disease pathogenesis. Trained staff ascertain SLE cases, unaffected family members and population-based controls, proceeding in compliance with the relevant laws and standards; participant consent and privacy are central to the LFRR's effort. Data, DNA, serum, plasma, peripheral blood and transformed B-cell lines are collected and stored, and subject to strict quality control and safety measures. Coded data and materials derived from the registry are available for approved scientific users. The LFRR has contributed to the discovery of most of the 37 genetic associations now known to contribute to lupus through 104 publications. The LFRR contains 2618 lupus cases from 1954 pedigrees that are being studied by 76 approved users and their collaborators. The registry includes difficult to obtain populations, such as multiplex pedigrees, minority patients and affected males, and constitutes the largest collection of lupus pedigrees in the world. The LFRR is a useful resource for the discovery and characterization of genetic associations in SLE. {\circledC} The Author 2010. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved.",
author = "Astrid Rasmussen and Sydney Sevier and Kelly, {Jennifer A.} and Glenn, {Stuart B.} and Teresa Aberle and Cooney, {Carisa M.} and Anya Grether and Ellen James and Jared Ning and Joanne Tesiram and Jean Morrisey and Tiny Powe and Mark Drexel and Wes Daniel and Bahram Namjou and Ojwang, {Joshua O.} and Nguyen, {Kim L.} and Cavett, {Joshua W.} and Te, {Jeannie L.} and James, {Judith A.} and {Hal Scofield}, R. and Kathy Moser and Gilkeson, {Gary S.} and Kamen, {Diane L.} and Carson, {Craig W.} and Quintero-del-Rio, {Ana I.} and {del Carmen Ballesteros}, Maria and Punaro, {Marilynn G.} and Karp, {David R.} and Wallace, {Daniel J.} and Michael Weisman and Merrill, {Joan T.} and Roberto Rivera and Petri, {Michelle A.} and Albert, {Daniel A.} and Espinoza, {Luis R.} and Utset, {Tammy O.} and Shaver, {Timothy S.} and Eugene Arthur and Anaya, {Juan Manuel} and Bruner, {Gail R.} and Harley, {John B.}",
year = "2011",
month = "1",
day = "1",
doi = "10.1093/rheumatology/keq302",
language = "English (US)",
pages = "47--59",
journal = "Rheumatology",
issn = "1462-0324",
publisher = "Oxford University Press",

}

Rasmussen, A, Sevier, S, Kelly, JA, Glenn, SB, Aberle, T, Cooney, CM, Grether, A, James, E, Ning, J, Tesiram, J, Morrisey, J, Powe, T, Drexel, M, Daniel, W, Namjou, B, Ojwang, JO, Nguyen, KL, Cavett, JW, Te, JL, James, JA, Hal Scofield, R, Moser, K, Gilkeson, GS, Kamen, DL, Carson, CW, Quintero-del-Rio, AI, del Carmen Ballesteros, M, Punaro, MG, Karp, DR, Wallace, DJ, Weisman, M, Merrill, JT, Rivera, R, Petri, MA, Albert, DA, Espinoza, LR, Utset, TO, Shaver, TS, Arthur, E, Anaya, JM, Bruner, GR & Harley, JB 2011, 'The lupus family registry and repository', Rheumatology, pp. 47-59. https://doi.org/10.1093/rheumatology/keq302

The lupus family registry and repository. / Rasmussen, Astrid; Sevier, Sydney; Kelly, Jennifer A.; Glenn, Stuart B.; Aberle, Teresa; Cooney, Carisa M.; Grether, Anya; James, Ellen; Ning, Jared; Tesiram, Joanne; Morrisey, Jean; Powe, Tiny; Drexel, Mark; Daniel, Wes; Namjou, Bahram; Ojwang, Joshua O.; Nguyen, Kim L.; Cavett, Joshua W.; Te, Jeannie L.; James, Judith A.; Hal Scofield, R.; Moser, Kathy; Gilkeson, Gary S.; Kamen, Diane L.; Carson, Craig W.; Quintero-del-Rio, Ana I.; del Carmen Ballesteros, Maria; Punaro, Marilynn G.; Karp, David R.; Wallace, Daniel J.; Weisman, Michael; Merrill, Joan T.; Rivera, Roberto; Petri, Michelle A.; Albert, Daniel A.; Espinoza, Luis R.; Utset, Tammy O.; Shaver, Timothy S.; Arthur, Eugene; Anaya, Juan Manuel; Bruner, Gail R.; Harley, John B.

En: Rheumatology, 01.01.2011, p. 47-59.

Resultado de la investigación: Contribución a RevistaRevisión Literaria

TY - JOUR

T1 - The lupus family registry and repository

AU - Rasmussen, Astrid

AU - Sevier, Sydney

AU - Kelly, Jennifer A.

AU - Glenn, Stuart B.

AU - Aberle, Teresa

AU - Cooney, Carisa M.

AU - Grether, Anya

AU - James, Ellen

AU - Ning, Jared

AU - Tesiram, Joanne

AU - Morrisey, Jean

AU - Powe, Tiny

AU - Drexel, Mark

AU - Daniel, Wes

AU - Namjou, Bahram

AU - Ojwang, Joshua O.

AU - Nguyen, Kim L.

AU - Cavett, Joshua W.

AU - Te, Jeannie L.

AU - James, Judith A.

AU - Hal Scofield, R.

AU - Moser, Kathy

AU - Gilkeson, Gary S.

AU - Kamen, Diane L.

AU - Carson, Craig W.

AU - Quintero-del-Rio, Ana I.

AU - del Carmen Ballesteros, Maria

AU - Punaro, Marilynn G.

AU - Karp, David R.

AU - Wallace, Daniel J.

AU - Weisman, Michael

AU - Merrill, Joan T.

AU - Rivera, Roberto

AU - Petri, Michelle A.

AU - Albert, Daniel A.

AU - Espinoza, Luis R.

AU - Utset, Tammy O.

AU - Shaver, Timothy S.

AU - Arthur, Eugene

AU - Anaya, Juan Manuel

AU - Bruner, Gail R.

AU - Harley, John B.

PY - 2011/1/1

Y1 - 2011/1/1

N2 - The Lupus Family Registry and Repository (LFRR) was established with the goal of assembling and distributing materials and data from families with one or more living members diagnosed with SLE, in order to address SLE genetics. In the present article, we describe the problems and solutions of the registry design and biometric data gathering; the protocols implemented to guarantee data quality and protection of participant privacy and consent; and the establishment of a local and international network of collaborators. At the same time, we illustrate how the LFRR has enabled progress in lupus genetics research, answering old scientific questions while laying out new challenges in the elucidation of the biologic mechanisms that underlie disease pathogenesis. Trained staff ascertain SLE cases, unaffected family members and population-based controls, proceeding in compliance with the relevant laws and standards; participant consent and privacy are central to the LFRR's effort. Data, DNA, serum, plasma, peripheral blood and transformed B-cell lines are collected and stored, and subject to strict quality control and safety measures. Coded data and materials derived from the registry are available for approved scientific users. The LFRR has contributed to the discovery of most of the 37 genetic associations now known to contribute to lupus through 104 publications. The LFRR contains 2618 lupus cases from 1954 pedigrees that are being studied by 76 approved users and their collaborators. The registry includes difficult to obtain populations, such as multiplex pedigrees, minority patients and affected males, and constitutes the largest collection of lupus pedigrees in the world. The LFRR is a useful resource for the discovery and characterization of genetic associations in SLE. © The Author 2010. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved.

AB - The Lupus Family Registry and Repository (LFRR) was established with the goal of assembling and distributing materials and data from families with one or more living members diagnosed with SLE, in order to address SLE genetics. In the present article, we describe the problems and solutions of the registry design and biometric data gathering; the protocols implemented to guarantee data quality and protection of participant privacy and consent; and the establishment of a local and international network of collaborators. At the same time, we illustrate how the LFRR has enabled progress in lupus genetics research, answering old scientific questions while laying out new challenges in the elucidation of the biologic mechanisms that underlie disease pathogenesis. Trained staff ascertain SLE cases, unaffected family members and population-based controls, proceeding in compliance with the relevant laws and standards; participant consent and privacy are central to the LFRR's effort. Data, DNA, serum, plasma, peripheral blood and transformed B-cell lines are collected and stored, and subject to strict quality control and safety measures. Coded data and materials derived from the registry are available for approved scientific users. The LFRR has contributed to the discovery of most of the 37 genetic associations now known to contribute to lupus through 104 publications. The LFRR contains 2618 lupus cases from 1954 pedigrees that are being studied by 76 approved users and their collaborators. The registry includes difficult to obtain populations, such as multiplex pedigrees, minority patients and affected males, and constitutes the largest collection of lupus pedigrees in the world. The LFRR is a useful resource for the discovery and characterization of genetic associations in SLE. © The Author 2010. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved.

U2 - 10.1093/rheumatology/keq302

DO - 10.1093/rheumatology/keq302

M3 - Literature review

SP - 47

EP - 59

JO - Rheumatology

JF - Rheumatology

SN - 1462-0324

ER -

Rasmussen A, Sevier S, Kelly JA, Glenn SB, Aberle T, Cooney CM y otros. The lupus family registry and repository. Rheumatology. 2011 ene 1;47-59. https://doi.org/10.1093/rheumatology/keq302