Ataxia UK has a collaborative partnership with CureDRPLA, a US-based non-profit organization that funds scientific projects to advance research for the rare ataxia Dentatorubral-pallidoluysian atrophy (DRPLA). Both Dr Julie Greenfield …
Sharing the success of the DRPLA Research Conference Read More »
Dr Julie Greenfield, Ataxia UK’s Head of Research, interviewed by Junko Shiozawa, who is @curedrpla’s Advisory Board Member, and her daughter has DRPLA. Check out Junko’s channel: @CureDiseaseKuriChannel Camera …
The optimal clinical pathway sets out what good treatment, care and support looks like for people with neurological conditions, from those experiencing the first symptoms, to those that have lived …
Optimal clinical pathway for people in England with rare neurological conditions Read More »
Article written by Dr Silvia Prades – DRPLA Research Manager On February 22nd, I organised a meet up for families affected by DRPLA who are based in Wales. I travelled …
Successful meet up in Cardiff with DRPLA families Read More »
DRPLA Research Manager, Dr Silvia Prades, interviews Dr Hector Garcia-Moreno and Ola Volhin about the DRPLA Natural History and Biomarkers Study. Ataxia UK and CureDRPLA are coordinating this study and …
Rare neurological conditions, such as ataxia, often cause problems with balance and coordination, which can limit physical activity. Interventions aimed at improving levels of physical activity are often recommended, for …
Last year, we publicised two surveys from the British Paediatric Neurology Association (BPNA) and the James Lind Alliance (JLA). The aim of these surveys was to identify research priorities for …
Top Ten UK research priorities for interventions in childhood neurological conditions Read More »
Ataxia UK and CureDRPLA are coordinating the DRPLA Natural History and Biomarker Study for this very rare form of ataxia. The funding for the study is provided by CureDRPLA. This …
The DRPLA Natural History and Biomarkers Study is now recruiting participants Read More »
On May 11th, CureDRPLA hosted the first-ever conference on Dentatorubral-pallidoluysian atrophy (DRPLA) research, in Boston (USA). Ataxia UK has a collaborative relationship with CureDRPLA and we are working together to …
In January 2022, researchers at UCL/UCLH, Children’s Hospital of Philadelphia, Ataxia UK and Friedreich’s Ataxia Research Alliance (FARA), published a paper on the attitudes of people with ataxia towards clinical …
Paper published on the attitudes of people with ataxia towards clinical trials Read More »
An article published in the Lancet Neurology showed that whole genome sequencing (WGS) can detect common inherited neurological disorders, including some ataxias. Genetic testing can be a slow process, with …
A simple DNA test can detect common neurological disorders Read More »
In the clinic, assessment of cerebellar ataxias has been largely confined to clinical rating scales (e.g. Scale for Assessment and Rating of Ataxia -SARA-), gait laboratories, imaging of the brain, …
Development and Validation of a Patient-Reported Questionnaire of Ataxia Progression Read More »
Ataxia UK, along with Ataxia Global Initiative and National Ataxia Foundation, recently partnered with Critical Path Institute (C-Path) for the launch of their Critical Path to Therapeutics for the Ataxias …
Ataxia UK and the US Foundation CureDRPLA are the lead organisations of the CureDRPLA Global Patient Registry. This Registry aims to collect data on as many Dentatorubral-pallidoluysian atrophy (DRPLA) patients …
On September 25, 2020 the National Ataxia Foundation (NAF) and CureDRPLA organised the Externally-Led Patient Focus Drug Development (EL-PFDD) meeting. You can watch the recording here. The EL-PFDD meeting provided a unique opportunity for the …
A new government strategy to improve the lives of people living with rare diseases, across the 4 nations of the United Kingdom, has now been launched. The UK Rare Disease Framework, following on from the previous Rare …
UK Rare Disease Framework launched to improve diagnosis and treatment of rare diseases Read More »
Researchers in Japan have shown that a compound called Arginine is able to prevent harmful protein clumps from forming in cell models of polyglutamine disorders.
Dr Marta Olejniczak and her colleagues have used a genetic tool to silence the expression of mutated genes containing expanded CAG repeats in patient-derived cell lines of various ataxias.
A project targeting the genetic cause of DRPLA, a rare form of ataxia, has received further funding from Ataxia UK.
At the Euro-ataxia meeting in Frankfurt on 9th November 2018 a workshop was held to discuss the role of patients and patient groups in research. This led to the creation of the Euro-ataxia patient charter which has now been published.
In July 2019, The Neurological Alliance published the results of the 2018/19 National Neurology Patient Experience Survey.
Ataxia UK’s Head of Research Julie Greenfield reports on the 2018 Euro-ataxia annual conference held in Frankfurt.
We are delighted that on 20 February 2019 the Ataxia UK Medical Guidelines were published in the Orphanet Journal of Rare Diseases.
Euro-ataxia held the latest annual meeting on 9-10th November 2018 in Frankfurt, Germany, hosted by the German ataxia charity DHAG, organised by Ataxia UK and sponsored by BioMarin.
NHS England has included hereditary ataxia in the final draft of the National Genomic Test Directory for rare and inherited disorders and cancer
IntraBio, a U.K. based biopharmaceutical company, has received an Orphan Drug Designation from the US Food and Drug Administration (FDA) for its lead compound (IB1000) for the treatment of spinocerebellar …
the European Commission approves the first 23 European Reference Networks for rare diseases (ERNs), including the one covering the ataxias.
