Friedreich’s ataxia

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Mum with rare condition mistakenly stopped for ‘drink driving’ and refused nightclub entry – Derbyshire Live

A Belper mum-of-two who was refused nightclub entry and stopped by the police due to misunderstandings surrounding…

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Breath Testing Shows Promise as Reliable, Simple Method for Diagnosing FA, Other Diseases – Friedreich’s Ataxia News

Breath testing holds potential as an accurate, simple, and noninvasive diagnostic tool for Friedreich’s ataxia (FA) and…

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Neurodegenerative disease mechanism and potential drug identified – University of California – Davis

Two new studies of progressive, neurodegenerative diseases linked to defects in cells’ mitochondria offer hope for developing a new biomarker for research and…

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Disabled man slipped out of his wheelchair and suffocated after his carer didn’t show up at his house – Daily Mail

The heartbroken family of a disabled man has spoken out after he fell out of his wheelchair and suffocated when his carer failed…

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Discovery of a gene associated with a set of poorly understood rare diseases – Biology News Net (press release) (registration)

In this regard, IRB Barcelona is currently conducting about 20 studies in rare diseases, among them Lafora disease, Kennedy syndrome, diverse type of…

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Avalanche Biotechnologies (AAVL) and Annapurna Therapeutics Announce Merger – StreetInsider.com

… consist of Avalanche’s existing ophthalmic programs and four new gene therapy based programs, which are focused on Alpha1-antitrypsin (A1AT) deficiency, cardiomyopathy associated…

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Airdrie girls with Friedreich’s ataxia get home from anonymous donor – CBC.ca

Earlier this year, Shanna Leavitt learned both her daughters Kadence, 11, and Addison, 9, have Friedreich’s ataxia — a rare genetic neurological disease…

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Disabled entrepreneur who fought for life in hospital launches awards for unsung Doncaster heroes – Doncaster Today

Wheelchair user Shane Bratby, who suffers from Friedreich’s ataxia which damages the nervous system, caught pneumonia while waiting in the rain for a…

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Gordon Gray fundraises for Batten disease to find cure for daughters Gwenyth and Charlotte – Daily Mail

A Hollywood producer’s desperate bid to save his two young daughters from a rare brain disease has taken over Facebook and Twitter as…

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Kayaking for a cure: two men battle gale force winds to raise funds for rare disease research – ABC Online

Mr Skelton’s wife suffers from Friedreich’s ataxia, a hereditary and incurable disease affecting the central nervous system and heart. “My wife has trouble…

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