Italy blocks controversial stem cell therapy

Italy blocks controversial stem cell therapy. Nature Biotechnology 31, 1062 (2013); doi:10.1038/nbt1213-1062a
Published online 06 December 2013

The Italian government withdrew its support for a controversial stem cell therapy trial before it was due to start, prompting an outcry from patients. The decision was announced by Health Minister Beatrice Lorenzin on October 10, after an ad hoc scientific committee deemed the treatment too risky and undefined. In…

Meritxell Teixidó: "People affected by Friedreich’s ataxia have come looking for us "

Meritxell Teixidó: "People affected by Friedreich’s ataxia have come looking for us ". IRB Barcelona in the media

Meritxell Teixidó, research associate with the Peptides and Proteins group lead by Ernest Giralt, is interviewed on Radio 4 about the gene therapy project on Friedreich's Ataxia that has just started in collaboration between IRB Barcelona and CBMSO in Madrid. This project is financed by donations through the Genefa Platform and two other patients' organizations, in an iniatitive lead by these associations.

Listen to the interview with Meritxell Teixidó here L'Observatori (from minute 13.50 to minute 21.55)(CAT)

A Patient’s Journey: Friedreich ataxia

A Patient’s Journey: Friedreich ataxia. Peter Gibilisco, research fellow, patient, Adam P Vogel, senior research fellow; BMJ 2013; 347 doi: http://dx.doi.org/10.1136/bmj.f7062 (Published 3 December 2013)

This patient describes his experience of Friedreich ataxia, from diagnosis at 14 years old to being confined to a wheelchair for nearly 30 years and developing serious problems with speech and swallowing.

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Trouble with ataxia: A longitudinal qualitative study of the diagnosis and medical management of a group of rare, progressive neurological conditions

Trouble with ataxia: A longitudinal qualitative study of the diagnosis and medical management of a group of rare, progressive neurological conditions . Gavin Daker-White, John Ealing, Julie Greenfield, Helen Kingston, Caroline Sanders, Katherine Payne; SAGE Open Medicine January - December 2013 vol. 1 2050312113505560

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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

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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