How can advances in epilepsy genetics lead to better treatments and cures?

Renzo Guerrini, Jeffrey Noebels

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Advances in genetic analysis are fundamentally changing our understanding of the causes of epilepsy, and promise to add more precision to diagnosis and management of the clinical disorder. Single gene mutations that appear among more complex patterns of genomic variation can now be readily defined. As each mutation is identified, its predicted effects can now be validated in neurons derived from the patient's own stem cells, allowing a more precise understanding of the cellular defect. Parallel breakthroughs in genetic engineering now allow the creation of developmental experimental models bearing mutations identical to the human disorder. These models enable investigators to carry out detailed exploration of the downstream effects of the defective gene on the developing nervous system, and a framework for pursuing new therapeutic target discovery. Once these genetic strategies are combined with interdisciplinary technological advances in bioinformatics, imaging, and drug development, the promise of delivering clinical cures for some genetic epilepsies will be within our reach.

Original languageEnglish
Title of host publicationAdvances in Experimental Medicine and Biology
Pages309-317
Number of pages9
Volume813
DOIs
Publication statusPublished - 2014

Publication series

NameAdvances in Experimental Medicine and Biology
Volume813
ISSN (Print)00652598
ISSN (Electronic)22148019

Fingerprint

Epilepsy
Bearings (structural)
Genes
Genetic engineering
Mutation
Neurology
Bioinformatics
Stem cells
Neurons
Genetic Engineering
Computational Biology
Imaging techniques
Defects
Nervous System
Theoretical Models
Stem Cells
Therapeutics
Research Personnel
Pharmaceutical Preparations
Genetics

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Guerrini, R., & Noebels, J. (2014). How can advances in epilepsy genetics lead to better treatments and cures? In Advances in Experimental Medicine and Biology (Vol. 813, pp. 309-317). (Advances in Experimental Medicine and Biology; Vol. 813). https://doi.org/10.1007/978-94-017-8914-1-25

How can advances in epilepsy genetics lead to better treatments and cures? / Guerrini, Renzo; Noebels, Jeffrey.

Advances in Experimental Medicine and Biology. Vol. 813 2014. p. 309-317 (Advances in Experimental Medicine and Biology; Vol. 813).

Research output: Chapter in Book/Report/Conference proceedingChapter

Guerrini, R & Noebels, J 2014, How can advances in epilepsy genetics lead to better treatments and cures? in Advances in Experimental Medicine and Biology. vol. 813, Advances in Experimental Medicine and Biology, vol. 813, pp. 309-317. https://doi.org/10.1007/978-94-017-8914-1-25
Guerrini R, Noebels J. How can advances in epilepsy genetics lead to better treatments and cures? In Advances in Experimental Medicine and Biology. Vol. 813. 2014. p. 309-317. (Advances in Experimental Medicine and Biology). https://doi.org/10.1007/978-94-017-8914-1-25
Guerrini, Renzo ; Noebels, Jeffrey. / How can advances in epilepsy genetics lead to better treatments and cures?. Advances in Experimental Medicine and Biology. Vol. 813 2014. pp. 309-317 (Advances in Experimental Medicine and Biology).
@inbook{9853bb74142d48a5baa0bece1fbdace5,
title = "How can advances in epilepsy genetics lead to better treatments and cures?",
abstract = "Advances in genetic analysis are fundamentally changing our understanding of the causes of epilepsy, and promise to add more precision to diagnosis and management of the clinical disorder. Single gene mutations that appear among more complex patterns of genomic variation can now be readily defined. As each mutation is identified, its predicted effects can now be validated in neurons derived from the patient's own stem cells, allowing a more precise understanding of the cellular defect. Parallel breakthroughs in genetic engineering now allow the creation of developmental experimental models bearing mutations identical to the human disorder. These models enable investigators to carry out detailed exploration of the downstream effects of the defective gene on the developing nervous system, and a framework for pursuing new therapeutic target discovery. Once these genetic strategies are combined with interdisciplinary technological advances in bioinformatics, imaging, and drug development, the promise of delivering clinical cures for some genetic epilepsies will be within our reach.",
author = "Renzo Guerrini and Jeffrey Noebels",
year = "2014",
doi = "10.1007/978-94-017-8914-1-25",
language = "English",
isbn = "9789401789134",
volume = "813",
series = "Advances in Experimental Medicine and Biology",
pages = "309--317",
booktitle = "Advances in Experimental Medicine and Biology",

}

TY - CHAP

T1 - How can advances in epilepsy genetics lead to better treatments and cures?

AU - Guerrini, Renzo

AU - Noebels, Jeffrey

PY - 2014

Y1 - 2014

N2 - Advances in genetic analysis are fundamentally changing our understanding of the causes of epilepsy, and promise to add more precision to diagnosis and management of the clinical disorder. Single gene mutations that appear among more complex patterns of genomic variation can now be readily defined. As each mutation is identified, its predicted effects can now be validated in neurons derived from the patient's own stem cells, allowing a more precise understanding of the cellular defect. Parallel breakthroughs in genetic engineering now allow the creation of developmental experimental models bearing mutations identical to the human disorder. These models enable investigators to carry out detailed exploration of the downstream effects of the defective gene on the developing nervous system, and a framework for pursuing new therapeutic target discovery. Once these genetic strategies are combined with interdisciplinary technological advances in bioinformatics, imaging, and drug development, the promise of delivering clinical cures for some genetic epilepsies will be within our reach.

AB - Advances in genetic analysis are fundamentally changing our understanding of the causes of epilepsy, and promise to add more precision to diagnosis and management of the clinical disorder. Single gene mutations that appear among more complex patterns of genomic variation can now be readily defined. As each mutation is identified, its predicted effects can now be validated in neurons derived from the patient's own stem cells, allowing a more precise understanding of the cellular defect. Parallel breakthroughs in genetic engineering now allow the creation of developmental experimental models bearing mutations identical to the human disorder. These models enable investigators to carry out detailed exploration of the downstream effects of the defective gene on the developing nervous system, and a framework for pursuing new therapeutic target discovery. Once these genetic strategies are combined with interdisciplinary technological advances in bioinformatics, imaging, and drug development, the promise of delivering clinical cures for some genetic epilepsies will be within our reach.

UR - http://www.scopus.com/inward/record.url?scp=84906902098&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84906902098&partnerID=8YFLogxK

U2 - 10.1007/978-94-017-8914-1-25

DO - 10.1007/978-94-017-8914-1-25

M3 - Chapter

C2 - 25012387

SN - 9789401789134

VL - 813

T3 - Advances in Experimental Medicine and Biology

SP - 309

EP - 317

BT - Advances in Experimental Medicine and Biology

ER -