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FARA Funded Research

Your generous support has funded all the research listed below.


For more information on FARA-funded research & scientists, please visit FARA Supported Research, Active Clinical Trials and the Featured Scientist.

The Friedreich’s Ataxia Accelerator will apply genomics tools to promote discovery of new treatments

A new research and drug discovery effort at the Broad Institute of MIT and Harvard, The Friedreich's Ataxia Accelerator, will help build a community of researchers at Broad focused on learning more about the molecular mechanisms underlying FA with the ultimate goal of developing therapeutic strategies for the disorder.

FARA is excited to have the Broad Institute investigators on our team applying novel ideas and technologies and bringing new expertise to the FA research community. We believe that building a collaborative community of partners and investing in research are essential for the discovery of treatments for FA.

Read the Entire Article Here

Ataxia: Hope starts with measurement

FARA and AFAF (our advocacy partner in France) awarded a research grant, from rideATAXIA raised funds, to Dr. Corben and colleagues to develop and test a digital spoon as a way to measure upper limb function in FA. With that original grant award the team demonstrated that this device was able to measure function reliability and accurately in individuals with mild and severe symptoms of ataxia. With this new funding they can take this device and other devices for measuring ataxia to the clinic so that we have improved tools for monitoring outcomes and treatment responses in our natural history study and clinical trials.

Read the Entire Article Here

Frataxin gene editing rescues Friedreich's ataxia pathology in dorsal root ganglia organoid-derived sensory neurons

In this study, the authors generate dorsal root ganglia organoids (DRG organoids) by in vitro differentiation of human iPSCs. Bulk and single-cell RNA sequencing show that DRG organoids present a transcriptional signature similar to native DRGs and display the main peripheral sensory neuronal and glial cell subtypes. Furthermore, when co-cultured with human intrafusal muscle fibers, DRG organoid sensory neurons contact their peripheral targets and reconstitute the muscle spindle proprioceptive receptors. FRDA DRG organoids model some molecular and cellular deficits of the disease that are rescued when the entire FXN intron 1 is removed, and not with the excision of the expanded GAA tract. These results strongly suggest that removal of the repressed chromatin flanking the GAA tract might contribute to rescue FXN total expression and fully revert the pathological hallmarks of FRDA DRG neurons.

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Test-retest reliability of the Friedreich's ataxia rating scale

The modified Friedreich Ataxia Rating Scale (mFARS) is a disease specific, exam-based neurological rating scale commonly used as an outcome measure in clinical trials. While extensive clinimetric testing indicates its validity in measuring disease progression, formal test-retest reliability was lacking. To fill this gap, the authors acquired results from screening and baseline visits of several large clinical trials and calculated intraclass correlation coefficients, coefficients of variance, standard error, and the minimally detectable changes. This study demonstrated excellent test-retest reliability of the mFARS, and its upright stability subscore.

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Distribution of Particles in Human Stem Cell-Derived 3D Neuronal Cell Models: Effect of Particle Size, Charge, and Density

Neurodegenerative diseases are generally characterized by a progressive loss of neuronal subpopulations, with no available cure to date. One of the main reasons for the limited clinical outcomes of new drug formulations is the lack of appropriate in vitro human cell models for research and validation. Stem cell technologies provide an opportunity to address this challenge by using patient-derived cells as a platform to test various drug formulations, including particle-based drug carriers. The therapeutic efficacy of drug delivery systems relies on efficient cellular uptake of the carrier and can be dependent on its size, shape, and surface chemistry. Although considerable efforts have been made to understand the effects of the physiochemical properties of particles on two-dimensional cell culture models, little is known of their effect in three-dimensional (3D) cell models of neurodegenerative diseases. Herein, the authors investigated the role of particle size (235-1000 nm), charge (cationic and anionic), and density (1.05 and 1.8 g cm-3) on the interactions of particles with human embryonic stem cell-derived 3D cell cultures of sensory neurons, called sensory neurospheres (sNSP). Templated layer-by-layer particles, with silica or polystyrene cores, and self-assembled glycogen/DNA polyplexes were used. Particles with sizes <280 nm effectively penetrated sNSP. Additionally, effective plasmid DNA delivery was observed up to 6 days post-transfection with glycogen/DNA polyplexes. The findings provide guidance in nanoparticle design for therapies aimed at neurodegenerative diseases, in particular Friedreich's ataxia, whereby sensory neurons are predominantly affected. They also demonstrate the application of 3D models of human sensory neurons in preclinical drug development.

Read the Entire Article Here

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