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Latest news on Friedreich's Ataxia research
Updated results from clinical trials and research initiatives
Friedreich's Ataxia fundraising activities and staying in touch
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The objective is to generate and characterize a human cellular model for Friedreich’s ataxia by obtaining induced pluripotent stem cells (iPSC) from the fibroblasts of affected patients. Induced pluripotent stem cells are cells which, through cellular reprogramming, have been able to reactivate their original capabilities in order to differentiate into any type of tissue. They are, therefore, adult cells whose “cellular memory” is erased so that they can be used to their full potential. According to the information released today by the Ministry of Health, this study will permit researchers to establish a human neural experimental model of the disease, something which is not yet available. The model could also be used to research the disease’s physiopathology, to search for genes with differential expressions, and to screen new compounds with therapeutic potential.
The second research project, called “Cellular Therapy for Diabetes Mellitus and its Complications: Optimizing the Process”, is under the direction of Dr. Bernat Soria as its principal investigator. This study will analyze the possibility of using cellular therapy in the treatment of diabetes mellitus and its complications. Because it involves a proposal which integrates physiologic, cellular, genetic, and immunologic aspects of diabetes, the project is likely to yield important results, as much in the sphere of understanding as in the treatment of this disease. This project could be very valuable in terms of new treatment proposals, given the important health and social problems posed by diabetes. In addition, the project involves the collaboration of different Spanish and international research teams: CABIMER (the Andalusian Center for Cell Biology and Regenerative Medicine in Seville), CNIO (the Spanish National Cancer Center in Madrid), CRG (the Center for Genomic Regulation in Barcelona), and the National University of Singapore, groups which each bring expertise in various aspects of the study of diabetes.
With these two new projects, Andalucia has already obtained a favorable report of the National Commission on Monitoring of the donation and Use of Human Cells and Tissues for a total of 24 research projects using embryonic stem cells.
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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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.