We then introduced into intron 1 *310 GAA repeats, amplified from FA patient DNA. Vector delivery into the neuronal cell line SH-SY5Y was achieved using the herpes simplex virus type-1 (HSV-1) amplicon system, which allowed high transduction efficiency. We demonstrated expression and detection of the fusion protein FXN Luciferase in SH-SY5Y. Most importantly, the presence of GAA repeats induced repression of frataxin expression by 75%, recapitulating what observed in FA patient cells.

The new vector iBAC-FRDA-Luciferase described here represents a novel tool for the study of FA since it allows rapid in vitro and in vivo quantitative detection of FXN. Injection in mouse brain will provide insight on FXN delivery and expression in live animals, thus providing important information for future gene therapy applications.

Lufino MMP (presenting)1, Alegre-Abarrategui J1, Lim F2, Wade-Martins R1

1Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, OX1 3QX

2Departamento de Biologýa Molecular, Centro de Biologýa Molecular ``Severo Ochoa'' (CSIC-UAM), Universidad Autonoma de Madrid, Madrid, Spain





Human Gene Therapy

BSGT 2009 Oral Presentations

To cite this paper:

Human Gene Therapy. April 2009, 20(4): 389-395. doi:10.1089/hum.2009.1032.



http://www.liebertonline.com/doi/pdf/10.1089/hum.2009.1032 (Or 6)



Kindly supplied by Juan Carlos Baiges




The legacy of Marie Schlau: literature to help cure Friedreich's Ataxia

If you feel like reading an unputdownable novel while collaborating with a just and solidary cause, "The Legacy of Marie Schlau" is your book! 100% of all funds raised will be dedicated to medical research to find a cure for Friedreich's Ataxia, a neurodegenerative disease that affects mostly young people, shortening their life expectancy and confining them to a wheelchair.

The life of Marie Schlau, a German Jewish girl born in 1833 hides great unsolved mysteries: accidents, disappearances, enigmas, unknown diagnoses, disturbing murders, love, tenderness, greed, lies, death ... alternatively a different story unfolds every time and takes us closer to the present. Thus, there are two parallel stories unravelling, each in a different age and place, which surprisingly converge in a revelatory chapter.

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Research projects currently being financed by BabelFAmily

Currently, BabelFAmily is financing two promising research projects aimed at finding a cure for Friedreich's Ataxia. Whenever you make a donation to us or purchase a copy of "The legacy of Marie Schlau", this is where all funds raised will be devoted to:

1) Gene Therapy for Friedreich's Ataxia research project:


The project is the result of an initiative of Spanish people affected by this rare disease who are grouped in GENEFA in collaboration with the Spanish Federation of Ataxias and the BabelFAmily. The Friedreich’s Ataxia Research Alliance (FARA), one of the main patients’ associations in the United States now joins the endeavour.

2) Frataxin delivery research project:

The associations of patients and families Babel Family and the Asociación Granadina de la Ataxia de Friedreich (ASOGAF) channel 80,000 euros of their donations (50% from each organisation) into a new 18-month project at the Institute for Research in Biomedicine (IRB Barcelona). The project specifically aims to complete a step necessary in order to move towards a future frataxin replacement therapy for the brain, where the reduction of this protein causes the most damage in patients with Friedreich’s Ataxia.

The study is headed by Ernest Giralt, head of the Peptides and Proteins Lab, who has many years of experience and is a recognised expert in peptide chemistry and new systems of through which to delivery drugs to the brain, such as peptide shuttles—molecules that have the capacity to carry the drug across the barrier that surrounds and protects the brain. Since the lab started its relation with these patients’ associations in 2013*, it has been developing another two projects into Friedrich’s Ataxia.



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