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Funding Awarded

4 awards

  • Role of TWEAK/Fn14 pathway in mediating muscle pathology in SMA

    Spinal muscular atrophy (SMA) is a devastating disease caused by loss of both nerve cells and muscle function. While the nerve is the major affected cell type, therapies specifically aimed at improving muscle function ameliorate survival and/or symptoms in SMA models. Thus,developing muscle-

  • What is Alpha-1?

    Alpha-1 antitrypsin deficiency (Alpha-1) is a genetic disorder that affects the lungs. Typically people with Alpha-1 present with chronic obstructive pulmonary disease (COPD) or severe asthma. Ireland has one of the highest rates of AATD in the world. 1 in 25 Irish people are carriers for the condition and are at risk of lung disease,...

  • Altered lipid raft cholesterol content contributes to the dysregulated activity of neutrophils in alpha-1 antitrypsin deficiency

    Alpha-1-antitrypsin (AAT) deficiency (AATD) is largely unrecognized and under diagnosed. This hereditary disorder results in the rapid progression of lung disease, especially in smokers. Specific treatment for this disorder is available in the form of weekly intravenous injections of AAT. This is referred to as augmentation therapy and...

  • Alpha-1 antitrypsin deficiency: Which is important phenotype, level, activity or all three?

    Alpha-1 antitrypsin (AAT) deficiency (AATD) is generally regarded as a rare condition but more recently, evidence points towards it being a condition that is relatively common but rarely diagnosed. The most severe form of this genetic disorder, where people carry two bad AAT genes (Z) is known as ZZ-AATD and this affects around 2000...