New method for diagnosing ARSACS discovered at Specialist Ataxia Centre in London
An Ataxia UK-funded research study on Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) has been published in the medical journal Brain. The study shows how a simple optical imaging technique can help provide an early diagnosis for ARSACS. Study lead Professor Paola Giunti (UCL Institute of Neurology, Head of the Ataxia Centre at UCL/UCLH and a BRC-funded Consultant) and colleague Dr Fion Bremner (also part of the Ataxia Centre), have used OCT to test a group of patients affected by ataxia to see if they could predict the genetic diagnosis causing ataxia in some patients. Read more about this study here.
Posted on 26/03/2018
New Options for Targeting Gene Mutation in Friedreich's Ataxia Described in Nucleic Acid Therapeutics
Researchers have shown that a wide variety of synthetic antisense oligonucleotides with different chemical modifications can activate the frataxin gene, which contains a mutation that decreases its expression in the inherited neurologic disorder Friedreich’s ataxia (FA). This new finding, which demonstrates a broad range of flexible options for identifying novel compounds capable of increasing frataxin protein expression and alleviating the effects of FA, is published in Nucleic Acid Therapeutics. You can find the article here.
Working with Industry - message from patients
Last Autumn, Findacure organised a day workshop to focus on the partnerships between patients' groups and industry in the context of clinical research. Dr Julie Vallortigara, our research officer, attended this workshop and gave a talk about Ataxia UK's view and experience of working with pharmaceutical companies for ataxia research. David Bennett-Orphan diseases/UK specialist wrote an article about this very informative day. You can find this article on rarebase website here.
Catch up on the Autumn's latest research news.Read more
Ataxia UK's involvement with AMRC's report on the impact of medical charity-funded research.Read more
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