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Scientific News

FARA funds research progress

In this section, you will find the most recent FA research publications, many of which are funded by FARA, as well as information on upcoming conferences and symposiums. You can search for articles by date using the archive box in the right hand column. To locate FARA Funded or Supported Research, click the hyperlink in the right hand column. You may also search for specific content using key words or phrases in the search button at the top right of your screen. Please be sure to visit other key research sections of our website for information on FARA’s Grant Program and the Treatment Pipeline.


Imaging neuronal activity in the central and peripheral nervous systems using new Thy1.2-GCaMP6 transgenic mouse lines

The genetically encoded calcium (Ca2+) sensor GCaMP6 has been widely used for imaging Ca2+ transients in neuronal somata, dendrites, and synapses. Here the authors describe five new transgenic mouse lines expressing GCaMP6F (fast) or GCaMP6S (slow) in the central and peripheral nervous system under the control of theThy1.2 promoter. These transgenic lines exhibit stable and layer-specific expression of GCaMP6 in multiple brain regions. They have several unique features compared to existingThy1.2-GCaMP6 mice, including sparse expression of GCaMP6 in layer V pyramidal neurons of the cerebral cortex, motor neurons in the spinal cord, as well as sensory neurons in dorsal root ganglia (DRG). These mouse lines allow for robust detection of Ca2+ transients in neuronal somata and apical dendrites in the cerebral cortex of both anesthetized and awake behaving mice, as well as in DRG neurons. These transgenic lines allows calcium imaging of dendrites and somas of pyramidal neurons in specific cortical layers that is difficult to achieve with existing methods.

Read the entire article HERE

An Instrumented Measurement Scheme for the Assessment of Upper Limb Function in Individuals with Friedreich Ataxia

Continuous and objective assessment is essential for accurate monitoring of the progression of neurodegenerative conditions such as Friedreich ataxia. However, current clinical assessments predominantly rely on the ability of the affected individual to complete specific clinical tests which may not capture the intricate kinematic details associated with ataxia. Moreover, such testing often consists of a level of subjectivity of the assessing clinician. In this paper, the authors propose an objective measuring instrument, in the form of a spoon, equipped with the Internet-of-Things (IoT) based system and relevant machine learning techniques to quantitatively assess impairment levels while engaged in routine daily activity. In a clinical study involving individuals diagnosed with Friedreich ataxia, movement patterns during a simulated eating task were captured and kinematic biomarkers were extracted that were consistent with the frequently-used clinical rating scales. Multivariate analysis of these biomarkers allowed to accurately classify individuals with Friedreich ataxia and control subjects to an accuracy of 91%. Furthermore, the kinematic information captured from the spoon can be used to introduce an alternative assessment scheme with a greater sensitivity to ataxic movements and with less inter-rater discrepancy.

Read the entire article HERE

Predictors of loss of ambulation in Friedreich's ataxia

Friedreich's ataxia (FRDA) is a characterized by progressive loss of coordination and balance leading to loss of ambulation (LoA) in nearly all affected individuals. While transition to becoming fully wheelchair bound is a critical milestone in the disease course, it presents a particularly challenging prediction, mostly due to variability in inter- and intra-subject severity and progression. For these reasons, LoA or potential surrogates have been impractical as outcomes in clinical trials. The authors studied progressive features leading to LoA in participants enrolled into the Friedreich's Ataxia Clinical Outcome Measures Study (FA-COMS), a natural history study with currently 4606 yearly follow up visits in 1021 patients. Loss of specific functions related to walking and standing of the neurological Friedreich Ataxia Rating Scale (FARS) exams were evaluated using time to event methods. To account for different severities, patients were stratified by age of disease onset. Early onset FRDA patients (

Read the entire article HERE

Frataxin Structure and Function

Mammalian frataxin is a small mitochondrial protein involved in iron sulfur cluster assembly. Valuable knowledge has been gained on the structural dynamics of frataxin, metal-ion-protein interactions, as well as on the effect of mutations on protein conformation, stability and internal motions. Additionally, laborious studies concerning the enzymatic reactions involved have allowed for understanding the capability of frataxin to modulate Fe-S cluster assembly function. Remarkably, frataxin biological function depends on its interaction with some proteins to form a supercomplex, among them NFS1 desulfurase and ISCU, the scaffolding protein. By combining multiple experimental tools including high resolution techniques like NMR and X-ray, but also SAXS, crosslinking and mass-spectrometry, it was possible to build a reliable model of the structure of the desulfurase supercomplex NFS1/ACP-ISD11/ISCU/frataxin. This review explores these issues showing how the scientific view concerning frataxin structure-function relationships has evolved over the last years.

Read the entire article HERE

Safety and Efficacy of Interferon γ in Friedreich's Ataxia

This study reports the results of an open-label clinical trial testing the safety and efficacy of recombinant human interferon γ (IFNγ)-1b in a group of 12 young FRDA patients treated for 6 months.

Read the entire article HERE

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