Cure DHDDS is a charity set up to support families affected by DHDDS mutations and help drive research into it. As DHDDS mutations with neurological manifestations were only deemed pathogenic in 2021 very little is known about the biochemical underpinning of this disease. The main symptoms exhibited in over 85% of patients from clinical studies by Serena Galosi at Sapienza University are tremor, myoclonus, learning difficulties and seizures. Over 70% also suffer with ataxia. These clinical symptoms can range from mild to severe. DHDDS gene mutations with neurological consequences seem to fall on the intersection of Congenital disorders of glycosylation (CDG’s) and inherited storage diseases, some scientists are framing both DHDDS mutations and NUS1 heterozygous variants as cis-prenyltransferase disorders. Our vision is a world where there is a cure for everyone with a DHDDS and NUS1 variant. We are looking to connect with families who have been affected by the DHDDS and NUS1 gene mutations and scientists / researchers who are working in this field.
Cure DHDDS的外部链接
Cure DHDDS转发了
https://lnkd.in/eBtNeDgK I’m very much looking to the Oxford Harrington Rare Disease Symposium this week. It’s a real honour to be part of the Discussion Panel and I’m excited to learn more about the pioneering research, innovative treatment approaches and collaborations in the rare disease space. #oxfordharrington #curedhdds
We are incredibly grateful to UNINAMO and President Annalisa Scopinaro for putting DHDDS mutations in the spotlight on their latest rare podcast. In this episode moderated by #UNIAMO President Annalisa Scopinaro, we will shed light on this disease identified a few years ago with Serena Galosi, Neuropsychiatrist at Sapienza University of Rome, Emanuele Bartolini, Neurologist Medical Director at IRCCS Fondazione Stella Maris in Pisa, and Mel Dixon, mother of 2 children with DHDDS, Founder of Cure DHDDS. #dhdds https://lnkd.in/ecC7e_eS
Cure DHDDS转发了
It was a relief to have my husband and the rest of the Cure DHDDS tandem team arrive home safely. Here’s a short clip of their epic tandem bike ride from John O Groats to Lands End. A huge thank you to everyone who has helped us along the way. Your support in raising funds for research and building awareness of DHDDS means the world to us. https://lnkd.in/eFN-tRQw
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This morning my husband sets off in a lab coat on a tandem bike to cycle just under 1000 miles from John o’ Groats to Lands End. He will be accompanied by close friends and family on the way to raise much needed funds for research into DHDDS mutations. DHDDS mutations have no treatment pathway and like many ultra rare diseases are under researched. So much emphasis is on families like us to raise money to get their loved ones rare disease researched. We hope that in the future this can change, so that individuals who are rare and their families are better supported to carve these treatment pathways that could give their loved ones a brighter future.
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A big thank you to ITV London for covering our latest fundraising for Cure DHDDS and highlighting the lack of pathway and funding for ultra rare conditions. The biggest thank you of all though goes to the scientists who are studying DHDDS. We are so grateful to have you researching our gene, and it is the incredible work you are doing that allows us to have hope for our children’s futures. https://lnkd.in/eEYuPdhN
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We are very grateful to Eleanor Fleming for sharing our story and helping raise awareness of DHDDS mutations, and the incredibly challenging journeys of families and individuals who suffer with ultra rare diseases. At the end of August my husband will be cycling 1000 miles in 10 days to raise awareness and funds for much needed research into DHDDS. Please do read the article and sponsor him if you can. https://lnkd.in/e3jBYfPN https://lnkd.in/evxFciFG
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We had a wonderful day at the Genomics England research summit. It was a privilege to be on the panel chaired by Dr Ana Lisa Tavares with Prof Mina Ryten and Dr Dan O’Connor. There were many enlightening talks and fantastic panel discussions, and it was lovely to catch up with lots of familiar faces. Thanks to all the team at Genomics England for organising such a great event #GERS2024 #curedhdds #curedhddsusa #cdguk
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It was a real honour to be invited to join the UPNAT symposium today, lots of incredibly interesting and inspiring presentations and discussions on novel therapies. It was great to also be part of the Panel offering the patient perspective and our personal journey on trying to gain access to these therapies. We hope that in the near future a genetic diagnosis no matter how rare can automatically lead you straight to research/ treatment opportunities and ultimately to a toolbox of therapeutic genomic options! ??
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Very proud that the Cure DHDDS Inaugural Scientific Exchange Meeting organised by Costello Medical is a finalist for the Communique Awards 2024. The wonderful team at Costello have been so pivotal in helping us bring our scientific community together, which is essential to driving research forward. We are hugely grateful to Costello for all the work they do behind the scenes to support small charities such as ours.
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Thank you London Scottish rugby club for a great night. We are hugely grateful for your support with fundraising and awareness raising which will make a huge difference to individuals suffering with DHDDS mutations. #curedhdds #londonscottish #legendsdinner #rugbyfamily