Welcome to BabelFAmily, the international project to defeat Friedreich's Ataxia

Interview with Dr. Roberto Testi

Sunday, 06 May 2012 22:08

Roberto Testi, Professor and Chair in Immunology

April 24, 2012

BabelFAmily: Dr. Testi, you are one of the foremost doctors researching possible Friedreich's Ataxia treatments and cures. As such, we wanted to conduct an interview with you to share news of your progress with our global readers and audience. And, it may be a little late but, we want to congratulate you on being a winner of the fourth prestigious Advanced Grants 2011 competition from the European Research Council for your Friedriech's Ataxia research.
Can you tell us about your interest in FA and how you became involved in this rare disease from a research perspective?

Dr. Testi: My scientific interest has been focused on the molecular basis of receptor signal transduction and cell death programs, including mitochondrial cell death, for many years. About 10 years ago I decided to focus on a specific disease in which mitochondrial cell death was playing a role. Among the potential candidates, Friedreich’s ataxia was particularly interesting because of its relative simplicity (defined, single gene defect), the appeal of a primordial and mysterious protein (frataxin) and, most of all, the urgent need of a therapy. So I progressively redirected 100% of the efforts of my group to FA research.

BabelFAmily: How many different projects are you working on around FA research?

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Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model

Saturday, 24 March 2012 20:34

Roberto Testi, Professor and Chair in ImmunologyPublished March 23, 2012

Abstract

Friedreich's ataxia (FRDA) is the most common hereditary ataxia, affecting approximately 3 in 100,000 individuals in Caucasian populations. It is caused by intronic GAA repeat expansions that hinder the expression of the FXN gene, resulting in defective levels of the mitochondrial protein frataxin. Sensory neurons in dorsal root ganglia (DRG) are particularly damaged by frataxin deficiency. There is no specific therapy for FRDA. Here we show that frataxin levels can be upregulated by interferon gamma (IFNgamma) in a variety of cell types, including primary cells derived from FRDA patients. IFNgamma appears to act largely through a transcriptional mechanism on the FXN gene. Importantly, in vivo treatment with IFNgamma increases frataxin expression in DRG neurons, prevents their pathological changes and ameliorates the sensorimotor performance in FRDA mice. These results disclose new roles for IFNgamma in cellular metabolism and have direct implications for the treatment of FRDA.

Hum. Mol. Genet. Open source full text link

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The European Research Council allocates close to €1.5 million to project headed by Prof. Roberto Testi aimed at developing treatment for Friedreich’s Ataxia

Monday, 20 February 2012 19:13

Roberto Testi, Professor and Chair in Immunology

Translation for BabelFAmily: Caroline Williamson

By Pamela Pergolini

Thursday, 16 February 2012 - For the fourth prestigious Advanced Grants 2011 competition, the European Research Council (ERC) has provided funding to 294 senior researchers with an overall budget of €661 million. At Tor Vergata University of Rome, grants were awarded to the project “FAST: Friedreich’s Ataxia - Research into new Strategies for Treatment” headed by Professor Roberto Testi, Chair in Immunology, and to the project “SIXXI - Twentieth Century Structural Engineering: the Italian Contribution” headed by Professor Sergio Poretti, Chair in Technical Architecture.
The European Research Council chose to provide funding in the region of one and a half million euro to the “FAST” project, with the aim to develop a treatment for Friedreich’s Ataxia, which confirms the great attention paid by the seventh Framework Programme to pursuing research into rare diseases.

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Repligen Initiates Phase 1 Clinical Trial of RG2833 in Patients with Friedreich’s Ataxia

Friday, 16 March 2012 08:53

Luca Durelli, M.D., Chief of Neurology at San Luigi Gonzaga University Hospital in TurinFirst Drug Targeting Core Genetic Defect in Friedreich’s Ataxia

Thursday, March 15, 2012 - WALTHAM, Mass. -- Repligen Corporation (NASDAQ:RGEN) announced today that it has enrolled its first patient in a Phase 1 clinical trial of RG2833 in adult patients with Friedreich’s ataxia (FA). FA is an inherited neurodegenerative disease caused by low levels of the protein frataxin which results in symptoms that typically present in childhood and lead to progressive loss of muscle and nerve function, often resulting in loss of life by early adulthood. RG2833 is an orally bioavailable, class 1 histone deacetylase inhibitor (HDACi) specifically designed to increase frataxin production in patients with FA. This study is being conducted in Turin, Italy and is the first clinical trial of a drug that targets the core genetic defect in FA.

The Phase 1 trial is a single ascending dose, crossover study in up to 20 adult FA patients. It is designed to evaluate the pharmacokinetic and safety profile of RG2833. Importantly, this study will also evaluate the pharmacodynamic response of RG2833 on various cellular and molecular biomarkers, including frataxin mRNA and frataxin protein.

Source/read more: Repligen's press release

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An original, international literary project to fund research on a terrible degenerative disease.

Monday, 09 May 2011 12:08

THE ENIGMATIC NOVEL, SET BETWEEN THE OLD WORLD AND THE NEW, WRITTEN BY EXTRAORDINARY PEOPLE SUFFERING FROM FRIEDREICH’S ATAXIA

Writers with this disease unite their talents and energies to compose a single, collaborative story.

Press release - For immediate release

May 9, 2011 – Writers suffering from a terrible disease are coming together to author a special, collaborative novel that will be sold in bookstores to collect funds for scientific research. This original literary project with a multiplicity of voices will be published to fight Friedreich’s Ataxia, a neurodegenerative disease that relentlessly affects many people worldwide and still has no cure. It is, however, a “niche” disease in which pharmaceutical companies do not invest. Resources to fund research on this disease are therefore collected from people who are either directly or indirectly affected by it and who work on a voluntary basis. This ambitious initiative was started by María Blasco, a 38 year old Spanish author suffering from Friedreich’s Ataxia since childhood. Some of the other writers from around the world who have joined the project are Fatima D’Oliveira (Portugal), Marguerite Black (South Africa), Rebecca Stant (Australia), Jamie Leigh Hansen (United States), Alessia Mainardi (Italy), Maria Pino Brumberg (Spain), Nicola Batty (UK), Claudia Parada (Mexico), just to name a few.

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