Research challenges in central nervous system manifestations of inborn errors of metabolism

P. I. Dickson, A. R. Pariser, S. C. Groft, R. W. Ishihara, D. E. McNeil, D. Tagle, D. J. Griebel, S. G. Kaler, J. W. Mink, E. G. Shapiro, K. J. Bjoraker, L. Krivitzky, J. M. Provenzale, A. Gropman, P. Orchard, G. Raymond, B. H. Cohen, R. D. Steiner, S. F. Goldkind, R. M. NelsonE. Kakkis, M. C. Patterson

Research output: Contribution to journalReview article

14 Citations (Scopus)

Abstract

The Research Challenges in CNS Manifestations of Inborn Errors of Metabolism workshop was designed to address challenges in translating potential therapies for these rare disorders, and to highlight novel therapeutic strategies and innovative approaches to CNS delivery, assessment of effects and directions for the future in the treatment of these diseases. Therapies for the brain in inborn errors represent some of the greatest challenges to translational research due to the special properties of the brain, and of inborn errors themselves. This review covers the proceedings of this workshop as submitted by participants. Scientific, ethical and regulatory issues are discussed, along with ways to measure outcomes and the conduct of clinical trials. Participants included regulatory and funding agencies, clinicians, scientists, industry and advocacy groups.

Original languageEnglish (US)
Pages (from-to)326-338
Number of pages13
JournalMolecular Genetics and Metabolism
Volume102
Issue number3
DOIs
StatePublished - Mar 1 2011

Fingerprint

Inborn Errors Metabolism
Neurology
Metabolism
Central Nervous System
Brain
Research
Education
Translational Medical Research
Ethics
Industry
Therapeutics
Outcome Assessment (Health Care)
Clinical Trials

All Science Journal Classification (ASJC) codes

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

Cite this

Dickson, P. I., Pariser, A. R., Groft, S. C., Ishihara, R. W., McNeil, D. E., Tagle, D., ... Patterson, M. C. (2011). Research challenges in central nervous system manifestations of inborn errors of metabolism. Molecular Genetics and Metabolism, 102(3), 326-338. https://doi.org/10.1016/j.ymgme.2010.11.164
Dickson, P. I. ; Pariser, A. R. ; Groft, S. C. ; Ishihara, R. W. ; McNeil, D. E. ; Tagle, D. ; Griebel, D. J. ; Kaler, S. G. ; Mink, J. W. ; Shapiro, E. G. ; Bjoraker, K. J. ; Krivitzky, L. ; Provenzale, J. M. ; Gropman, A. ; Orchard, P. ; Raymond, G. ; Cohen, B. H. ; Steiner, R. D. ; Goldkind, S. F. ; Nelson, R. M. ; Kakkis, E. ; Patterson, M. C. / Research challenges in central nervous system manifestations of inborn errors of metabolism. In: Molecular Genetics and Metabolism. 2011 ; Vol. 102, No. 3. pp. 326-338.
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Dickson, PI, Pariser, AR, Groft, SC, Ishihara, RW, McNeil, DE, Tagle, D, Griebel, DJ, Kaler, SG, Mink, JW, Shapiro, EG, Bjoraker, KJ, Krivitzky, L, Provenzale, JM, Gropman, A, Orchard, P, Raymond, G, Cohen, BH, Steiner, RD, Goldkind, SF, Nelson, RM, Kakkis, E & Patterson, MC 2011, 'Research challenges in central nervous system manifestations of inborn errors of metabolism', Molecular Genetics and Metabolism, vol. 102, no. 3, pp. 326-338. https://doi.org/10.1016/j.ymgme.2010.11.164

Research challenges in central nervous system manifestations of inborn errors of metabolism. / Dickson, P. I.; Pariser, A. R.; Groft, S. C.; Ishihara, R. W.; McNeil, D. E.; Tagle, D.; Griebel, D. J.; Kaler, S. G.; Mink, J. W.; Shapiro, E. G.; Bjoraker, K. J.; Krivitzky, L.; Provenzale, J. M.; Gropman, A.; Orchard, P.; Raymond, G.; Cohen, B. H.; Steiner, R. D.; Goldkind, S. F.; Nelson, R. M.; Kakkis, E.; Patterson, M. C.

In: Molecular Genetics and Metabolism, Vol. 102, No. 3, 01.03.2011, p. 326-338.

Research output: Contribution to journalReview article

TY - JOUR

T1 - Research challenges in central nervous system manifestations of inborn errors of metabolism

AU - Dickson, P. I.

AU - Pariser, A. R.

AU - Groft, S. C.

AU - Ishihara, R. W.

AU - McNeil, D. E.

AU - Tagle, D.

AU - Griebel, D. J.

AU - Kaler, S. G.

AU - Mink, J. W.

AU - Shapiro, E. G.

AU - Bjoraker, K. J.

AU - Krivitzky, L.

AU - Provenzale, J. M.

AU - Gropman, A.

AU - Orchard, P.

AU - Raymond, G.

AU - Cohen, B. H.

AU - Steiner, R. D.

AU - Goldkind, S. F.

AU - Nelson, R. M.

AU - Kakkis, E.

AU - Patterson, M. C.

PY - 2011/3/1

Y1 - 2011/3/1

N2 - The Research Challenges in CNS Manifestations of Inborn Errors of Metabolism workshop was designed to address challenges in translating potential therapies for these rare disorders, and to highlight novel therapeutic strategies and innovative approaches to CNS delivery, assessment of effects and directions for the future in the treatment of these diseases. Therapies for the brain in inborn errors represent some of the greatest challenges to translational research due to the special properties of the brain, and of inborn errors themselves. This review covers the proceedings of this workshop as submitted by participants. Scientific, ethical and regulatory issues are discussed, along with ways to measure outcomes and the conduct of clinical trials. Participants included regulatory and funding agencies, clinicians, scientists, industry and advocacy groups.

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U2 - 10.1016/j.ymgme.2010.11.164

DO - 10.1016/j.ymgme.2010.11.164

M3 - Review article

C2 - 21176882

AN - SCOPUS:79851510629

VL - 102

SP - 326

EP - 338

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

SN - 1096-7192

IS - 3

ER -