Research Projects

DNAFARA Ireland is committed to supporting research into treatments and a cure for Friedreich’s Ataxia. Below are the projects that we have supported since we were established.

2017 – €35,000

  1. $10,000 towards Dr Dolores Molto, Universitat de Valencia, Spain. She is looking at the genetic factors involved in frataxin expression transcriptional silencing mediated by the GAA repeat expansion caused by FA.
  2. $10,000 to Prof Michael Green, University of Massachusetts Medical School, Worcester, USA. He is trying to find compounds which will activate the gene which produces frataxin a protein that is lowered in FA.
  3. €3,000 to support to the International Ataxia research conference held in Pisa, Italy in Sept. 2017. Such a conference serves as a forum for researchers to meet and debate.
  4. $10,000 to Adam Vogel, University of Melbourne, Australia who is working on a speech programmes for those with Friedreich’s Ataxia. Adam has worked extensively on speech in FA. One of the big take home messages from the International Ataxia conference in Pisa in September 2017 was how important it is to maintain communication as the disability with FA worsens.
  5. $10,000 to Dr Richard Wade-Martins, Oxford His project is titled “Identification of FXN-increasing drug targets by CRISPR-mediated mutagenesis”   CRISPR is the latest genome editing, it is faster, cheaper, more accurate, technically easier to use which means it is more accessible to a larger number of scientists and laboratories. It may be several years before genome editing could directly benefit rare disease patients.

2016 – €48,000

  1. $7000 towards Dr Alice Pebay University of Melbourne, Australia who is studying Friedreich’s Ataxia induced pluripotent stem cell derived cardiomyocytes.
  2. $7000 towards Dr Sathiji Nageshwaran Imperial College London (Wellcome Trust Translational Medicine Fellow) who is looking at therapy which operates at the frataxin gene level.
  3. €10,000 towards Gene therapy program which has been started between Drs Corti & Byrne at  University of Florida and goFAR (Italian Patient organisation).
  4. $7,000 has gone this year to Dr Marek Napierala, University of Birmingham in the 2nd year of his project looking for a biomarker for Friedreich’s Ataxia which could be used in clinical trials. FARA Ireland supported this project last year as well.
  5. $7,000 has gone to Dr Gino Cortpassi, University of Calfornia to test seven known drugs for their ability to increase frataxin, the protein that is reduced in Friedreich’s Ataxia. This project is carried out in conjunction with Dr Paola Guinti, University College London and Dr Mark Pook, Brunnel University London.
  6. $7,000 to Dr Dottori, Melbourne who is studying the transformation of the iPSC cells into neurons to replace the damaged neurons in Friedreich’s Ataxia.
  7. $7,000 to Dr.Jeol Gottedfeld, The Scripps Research Institute who like the Australians is also trying to develop neuronal cells from iPSC cells through a different mechanism than the Australians.

2015 – €32,000

  1. $7,000 to support a gene therapy project, which is led by Dr. Alain Martelli, IGBMC, Strasbourg, France. It is looking at the possibility of gene therapy altering nerve cells in the spinal cord.
  2. $7,000 to Dr Marek Napierala, University of Alabama, Birmingham. It is looking molecular structures of Friedreich’s ataxia in an effort to identify novel biomarkers.
  3. $7,000 to Dr Richard Mouro Pinot, Harvard University, Massachusetts USA. He is looking at ways to overcome frataxin silencing in Friedreich’s Ataxia.
  4. $7,000 to Prof Massimo Pandolfo laboratory at the University of Brussels, Belgium for the 2nd year of his project which is investigating the role of a specific protein in Friedreich’s Ataxia and hoping to develop new pathways to treat Friedreich’s Ataxia.
  5. $7,000 was given Dr Mark Payne & Dr Matthew Hirschey Indiana USA(Duke) who are looking at Mitochondrial Protein Acetylation for treatment of Heart Failure in Friedreich’s Ataxia. The long-term goal of these studies is see if one can improve mitochondrial function in cardiomyopathies of metabolic origin such as FRDA. 

2014 – $25,000 & €15,814

1. $6,500 to a project, looking the basic scientific problem in Friedreich’s ataxia, and what drugs might help these problems. This project is led by Dr Paola Guinti, University College London.
2. $6,500 to Dr Michele Lufino, University Oxford who is looking at pharmaceutical products which would help to increase the frataxin level. Frataxin is the protein which is missing in Friedreich’s Ataxia.
3. $7,000 to Dr Veronique Monnier, University Paris who is using flies to help identify medication which could be used in Friedreich’s Ataxia. Flies are an ideal medium to study in this research area as their life span is short.
4. €12,500 to Dr Helene Puccino, Strasburg.
Gene therapy in Friedreich’s Ataxia has recently shown considerable promise in animals in reversing the associated heart problems in Dr Helene Puccino laboratory in Strasburg associated with Friedreich’s Ataxia. She is now looking at the effect of gene therapy in the nerve cells.
5. €3,314 to support the International Ataxia Conference which is due to be held in London in March 2015.
6. $7,000 to Prof Massimo Pandolfo laboratory at the University of Brussels, Belgium. They are investigating of the role of the specific protein in Friedreich’s ataxia and identification of new possible pathways for therapeutic intervention for Friedreich’s Ataxia. Sometimes this specific protein can increase activity of other protein and sometimes it decreases the activity.


2013 – $17,000

1.  $7,000 to a project, looking the effect of adult stem cells may have on Friedreich’s Ataxia in a laboratory animal model in November 2013. Dr Jonathan Jones, Miguel University, Alicante, Spain is currently working on a project which will help researchers understand if and how stem cells can protect nerve cells in Friedreich’s Ataxia, and provide a potential treatment approach for the disease.

2. $5,000 to Dr Mark Pook, Brunel University, London for his project investigating another drug, similar to HADCi, which could be a potential treatment for Friedreich’s Ataxia

3. $5,000 to Dr Javier Diaz-Nido, Madrid. He is investigating how drugs can penetrate the brain when used in connection with gene therapy. Dr Javier has worked extensively on gene therapy over the last
few years

2012 – $5,000

In 2012, the American patient organisation, FARA agreed to support the clinical development plan for RG3250 and submit a pre-Investigational New Drug (IND) application to the American government organisation – Food and Drugs administration (FDA).  The money raised by FARA Ireland, $5,000, was given to this project.