Accept Cookies?
Provided by OpenGlobal E-commerce

Please wait while your page loads ...

 

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.

Cellular, Molecular and Functional Characterisation of YAC Transgenic Mouse Models of Friedreich Ataxia

BACKGROUND:

Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder, caused by a GAA repeat expansion mutation within intron 1 of the FXN gene. We have previously established and performed preliminary characterisation of several human FXN yeast artificial chromosome (YAC) transgenic FRDA mouse models containing GAA repeat expansions, Y47R (9 GAA repeats), YG8R (90 and 190 GAA repeats) and YG22R (190 GAA repeats).

Read More: Cellular, Molecular and Functional Characterisation of YAC Transgenic Mouse Models of Friedreich Ataxia

Epigenetic therapy for Friedreich's ataxia

OBJECTIVE:

To investigate whether a histone deacetylase inhibitor (HDACi) would be effective in an in vitro model for the neurodegenerative disease Friedreich ataxia (FRDA) and to evaluate safety and surrogate markers of efficacy in a phase I clinical trial in patients.

Read More: Epigenetic therapy for Friedreich's ataxia

A study of up to 12 years of follow-up of Friedreich ataxia utilising four measurement tools

OBJECTIVE:

To explore the progression of Friedreich ataxia by analysing the change in scores of four clinical measures (the Friedreich Ataxia Rating Scale (FARS), the International Cooperative Ataxia Rating Scale (ICARS), the Functional Independence Measure (FIM) and the Modified Barthel Index (MBI)) over a period of up to 12 years, to ascertain the effects of clinical variables on performance of these measures, and to determine the most sensitive rating scale for measuring disease progression.

Read More: A study of up to 12 years of follow-up of Friedreich ataxia utilising four measurement tools

Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's Ataxia

Inherited deficiency in the mitochondrial protein frataxin causes the rare disease Friedreich's ataxia (FA), for which there is no successful treatment. We identified a redox deficiency in FA cells and used this to model the disease. We screened a 1600-compound library to identify existing drugs which could be of therapeutic benefit. We identified the topical anesthetic dyclonine as protective. Dyclonine increased FXN transcript and frataxin protein dose-dependently in FA cells and brains of animal models.

Read More: Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's Ataxia

Mesenchymal Stem Cells Improve Motor Functions and Decrease Neurodegeneration in Ataxic Mice

The main objective of this work is to demonstrate the feasibility of using bone marrow-derived stem cells in treating a neurodegenerative disorder such as Friedreich's ataxia. In this disease, the dorsal root ganglia of the spinal cord are the first to degenerate.

Read More: Mesenchymal Stem Cells Improve Motor Functions and Decrease Neurodegeneration in Ataxic Mice

Page 32 of 35

SHARE

FacebookTwitterLinkedInYoutube
Event F.jpg

 

Archived in
  Scientific News


 

 

Tagged in
FARA Scientific News


Site Map     Privacy Policy     Service Terms     Log-in     Contact     Charity Navigator