Foundation-Industry Relationships - A New Business Model Joint-Venture Philanthropy in Therapy Development.

Foundation-Industry Relationships - A New Business Model Joint-Venture Philanthropy in Therapy Development. Ronald J. Bartek, Curr Top Med Chem. 2013 Nov 27.

Keywords: business model, medical therapy development, academic scientists, government agencies, foundations, biotechs, small biopharmaceutical entities, larger industry companies patient-advocacy community, joint-venture philanthropy.

Optical Coherence Tomography and Visual Field Findings in Patients With Friedreich Ataxia.

Optical Coherence Tomography and Visual Field Findings in Patients With Friedreich Ataxia.Dağ E, Ornek N, Ornek K, Erbahçeci-Timur IE; J Neuroophthalmol. 2013 Nov 25.

Clinical Trial: 3D Gait Analysis Participants Needed

Clinical Trial: 3D Gait Analysis Participants Needed. Center for Gait and Movement Analysis Lab at the Children's Hospital Colorado. COMIRB Protocol Number: 13-1857


This study plans to learn more about the coordination of how people without a walking pathology and people who are typically developing or normal walk in response to various conditions using motion capture technology at the Center for Gait and Movement Analysis Lab.

Eligibility Criteria: .../... Diagnosis of either Friedreich's or spinocerebellar ataxia .../...

Effect of combined systolic and diastolic functional parameter assessment for differentiation of cardiac amyloidosis from other causes of concentric left ventricular hypertrophy.

Effect of combined systolic and diastolic functional parameter assessment for differentiation of cardiac amyloidosis from other causes of concentric left ventricular hypertrophy. Liu D, Hu K, Niemann M, Herrmann S, Cikes M, Störk S, Gaudron PD, Knop S, Ertl G, Bijnens B, Weidemann F; Circulation. Cardiovascular Imaging [2013, 6(6):1066-1072]. DOI: 10.1161/CIRCIMAGING.113.000683


Keywords: differential diagnosis, cardiac amyloidosis, isolated arterial hypertension, Fabry disease, Friedreich ataxia, deceleration time of early filling, left ventricular hypertrophy, longitudinal strain

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

PDF

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