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'Never seen anything as effective' – the not-so-new-drug repurposed for a rare disease – Horizon Magazine Blog

'Never seen anything as effective' – the not-so-new-drug repurposed for a rare disease – Horizon Magazine Blog
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United States , United Kingdom , City Of , Nick Sireau , Lakshminarayan Ranganath , International Rare Diseases Research Consortium , National Institutes Of Health , European Medicines Agency , Royal Liverpool University Hospital , Drug Administration , Great Ormond Street , National Institutes , Professor Lakshminarayan Ranganath , International Rare Diseases Research ,

'Never seen anything as effective' – the not-so-new-drug repurposed for a rare disease – Horizon Magazine Blog


The earliest signs of alkaptonuria are often subtle and harmless, like a diaper stained black. However, over the years, this rare genetic disease can lead to a lifetime of surgery. Now, after 20 years of research, a not-so-new drug can offer relief for thousands of patients worldwide.
The disease, also known as AKU, prevents the breakdown of a chemical called homogentisic acid in the body. The kidneys help to clear this chemical and get rid of it through urine. When exposed to the air, it turns black and this is how parents usually spot the first sign of the condition in children. ....

United States , United Kingdom , City Of , Nick Sireau , Lakshminarayan Ranganath , International Rare Diseases Research Consortium , National Institutes Of Health , European Medicines Agency , Royal Liverpool University Hospital , Drug Administration , Great Ormond Street , National Institutes , Professor Lakshminarayan Ranganath , International Rare Diseases Research , ஒன்றுபட்டது மாநிலங்களில் , ஒன்றுபட்டது கிஂக்டம் , நகரம் ஆஃப் , லட்சுமிநாராயண் ரங்கநாத் , சர்வதேச ரேர் நோய்கள் ஆராய்ச்சி கூட்டமைப்பு , தேசிய நிறுவனங்கள் ஆஃப் ஆரோக்கியம் , அரச லிவர்பூல் பல்கலைக்கழகம் மருத்துவமனை , நன்று ஆர்‌மஂட் தெரு , தேசிய நிறுவனங்கள் , ப்ரொஃபெஸர் லட்சுமிநாராயண் ரங்கநாத் , சர்வதேச ரேர் நோய்கள் ஆராய்ச்சி ,

Developing a Treatment for Black Bone Disease by Nick Sireau


Developing a Treatment for Black Bone Disease by Nick Sireau
Shannon Gunn
17 February 2021
As emphasised by the ongoing COVID-19 pandemic, seeing our loved ones impacted by something can really motivate us to make a difference. At the Festival of Genomics and Biodata 2021, we were joined by Nick Sireau (Chair and CEO,
AKU Society) who gave an inspirational talk about his experience advocating for people with alkaptonuria and the journey to finally finding a treatment.
Red Cabbage
Alkaptonuria (also known as AKU or Black Bones Disease) is a rare genetic metabolic disorder. It is characterised by the accumulation of homogentisic acid (HGA) in the body. It is caused by mutations in the ....

United Kingdom , Vastra Gotalands Lan , Sven Lindstedt , Archibald Garrod , Nick Sireau , Julien Sireau , James Gallagher , Britain Big Lottery Fund , European Commission , Drug Administration , University Of Liverpool , Black Bones Disease , Big Lottery , ஒன்றுபட்டது கிஂக்டம் , ஸ்வெந் லிந்ட்ஸ்தெட்ட் , ஜேம்ஸ் கல்லாகர் , பிரிட்டன் பெரியது லாட்டரி நிதி , ஐரோப்பிய தரகு , பல்கலைக்கழகம் ஆஃப் லிவர்பூல் , கருப்பு எலும்புகள் நோய் , பெரியது லாட்டரி ,