Cell Symposia: Using Stem Cells to Model and Treat Human Disease

Cell Symposia: Using Stem Cells to Model and Treat Human Disease, November 21-23, 2013, Cedars-Sinai Medical Center, Los Angeles, USA

Posters about Friedreich's Ataxia

Combined genome editing, reprogramming, and high-throughput biology identify novel therapeutics for Friedreich’s Ataxia
R. Villaseñor*1 ,2, L. Miraglia3, P. Manos4, F. Berenshteyn4, A. Romero3, B. Tu3, T. Punga1 ,2, P. Knuckles1 ,2, S. Duss1 ,2, C. Littlefield4, 1Friedrich Miescher Institute for Biomedical Research, Switzerland, 2University of Basel, Switzerland, 3Genomics Institute of the Novartis Research Foundation, USA, 4Novartis Institutes for Biomedical Research, USA

Epigenetic therapy for Friedreich’s ataxia
E. Soragni*1, E. Campau1, J. Du1, W. Miao2, V. Jacques2, J.R. Rusche2, J.M. Gottesfeld1, 1The Scripps Research Institute, USA, 2Repligen Corporation, USA

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From evolutionary bystander to master manipulator: the emerging roles for the mitochondrial genome as a modulator of nuclear gene expression

From evolutionary bystander to master manipulator: the emerging roles for the mitochondrial genome as a modulator of nuclear gene expression. Martin P Horan, Neil J Gemmell and Jonci N Wolff; European Journal of Human Genetics (2013) 21, 1335–1337; doi:10.1038/ejhg.2013.75; published online 24 April 2013.

General issues and the challenges ahead of knowledge in genetics

Letter, PDF

Does Intrathecal Baclofen Have a Place in the Treatment of Painful Spasms in Friedreich Ataxia

Does Intrathecal Baclofen Have a Place in the Treatment of Painful Spasms in Friedreich Ataxia. Ghaderi Berntsson S., Holtz A., Melberg A.; Case Rep Neurol 2013;5:201-203 (DOI:10.1159/000356823).


Open Access, Full Text Pdf

Improving communication and swallowing function in people with a neurodegenerative disease

improving communication and swallowing function in people with a neurodegenerative disease. Adam Vogel PhD, Speech Neuroscience Unit,
The University of Melbourne, Australia.

Adam’s group is committed to enhancing communication and swallowing function in patients with progressive neurological disorders, The Speech Neuroscience Unit has several studies investigating swallowing and communication profiles in a variety of disorders including Friedreich ataxia.

Mitochondrial Enhancement for Neurodegenerative Movement Disorders: A Systematic Review of Trials Involving Creatine, Coenzyme Q10, Idebenone and Mitoquinone.

Mitochondrial Enhancement for Neurodegenerative Movement Disorders: A Systematic Review of Trials Involving Creatine, Coenzyme Q10, Idebenone and Mitoquinone.Liu J, Wang LN, CNS Drugs 2013 Nov 16, DOI 10.1007/s40263-013-0124-4

Keywords: Neurodegenerative movement disorders, Parkinson's disease (PD), atypical parkinsonisms, Huntington's disease (HD), Friedreich's ataxia (FA), mitochondrial dysfunction, mitochondrial enhancement, creatine, coenzyme Q10 (CoQ10), idebenone, mitoquinone.

'Grammar' Plays Key Role in Activating Genes

'Grammar' Plays Key Role in Activating Genes. genes. ScienceDaily. Retrieved November 19, 2013, from http://www.sciencedaily.com­ /releases/2013/08/130812170336.htm

Researchers have probed deep into the cell's genome, beyond the basic genetic code, to begin learning the "grammar" that helps determine whether or not a gene gets switched on to make the protein it encodes.


Journal Reference:
Massively parallel decoding of mammalian regulatory sequences supports a flexible organizational model. Robin P Smith, Leila Taher, Rupali P Patwardhan, Mee J Kim, Fumitaka Inoue, Jay Shendure, Ivan Ovcharenko, Nadav Ahituv. Nature Genetics, 2013; DOI: 10.1038/ng.2713

Exploring Mitochondrial Systems Properties of Neurodegenerative Diseases through Interactome Mapping

Review: Exploring Mitochondrial Systems Properties of Neurodegenerative Diseases through Interactome Mapping.James Vlasblom, Ke Jin, Sandy Kassir, Mohan Babu; Journal of Proteomics, Available online 18 November 2013. http://dx.doi.org/10.1016/j.jprot.2013.11.008

FULL TEXT PDF

Neuromuscular Scoliosis

Neuromuscular Scoliosis. Anand M. Allam, Aloysia L. Schwabe; PM&R, Volume 5, Issue 11, November 2013, Pages 957-963. http://dx.doi.org/10.1016/j.pmrj.2013.05.015

"Progression increases after ambulation is lost and during the adolescent growth spurt. Unlike idiopathic scoliosis, curve progression continues after puberty. Prevention of secondary complications and utilization of bracing can delay but not eliminate the need for corrective surgery"

"Surgical intervention may be delayed with appropriate nonoperative treatment. However, prolonged delays of surgery in the setting of a progressive neuromuscular disease may increase the risk of complications. Thus, surgical planning should be discussed early in the course of the disease."

Apoptotic cell death and altered calcium homeostasis caused by frataxin depletion in dorsal root ganglia neurons can be prevented by BH4 domain of Bcl-xL protein

Apoptotic cell death and altered calcium homeostasis caused by frataxin depletion in dorsal root ganglia neurons can be prevented by BH4 domain of Bcl-xL protein . Stefka Mincheva-Tasheva, Elia Obis, Jordi Tamarit and Joaquim Ros; Hum. Mol. Genet. (2013) doi: 10.1093/hmg/ddt576. First published online: November 15, 2013.

Keywords: Friedreich ataxia, mitochondrial protein frataxin, dorsal root ganglion (DRG), mitochondrial membrane potential decrease, neurite degeneration, apoptotic cell death, free intracellular Ca2+ levels, Ca2+-mediated signaling pathways, altered calcium homeostasis, BH4, Bcl-xL.

Valoración y tratamiento del pie espástico en el adulto

Valoración y tratamiento del pie espástico en el adulto. P. Denormandie, J.-S. Béranger, B. Combourieu, L. Mailhan, A. Schnitzler; EMC - Podología, Volume 15, Issue 4, November 2013, Pages 1-11

"Assessment and treatment of spastic foot in the adult"(Paper in Spanish)

Palabras clave: Pie equino; Espasticidad muscular; Neurotomía; Ataxia de Friedreich; enfermedades neurológicas.

keywords: Equine foot; muscle spasticity; Neurotomy, FA; neurological diseases.