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- Видео 80
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Ring 20 Research and Support UK CIO
Великобритания
Добавлен 14 сен 2017
Ring20 Research and Support UK CIO is a small charitable organisation, operating from the UK to support those suffering from, or affected by Ring Chromosome 20 Syndrome.
R(20) is a very rare epilepsy syndrome, resulting in intractable epilepsy with ~150 cases reported worldwide in literature, though it is believed to be under-diagnosed. Families can feel isolated and many welcome the opportunity to speak with others in the same situation, wherever in the world, in whatever language. Our aim is to provide a support group network in order to facilitate communications between those families
R(20) can be present in mosaic or non-mosaic form, with non-mosaic patients appearing to be more severly affected by the disease. Though a genetic condition, age of onset of seizures is varied amongst patients.
There is no specific treatment that appears to be successful in controlling seizures; families are keen to be aware of and/or partake or help fund research projects into r(20).
R(20) is a very rare epilepsy syndrome, resulting in intractable epilepsy with ~150 cases reported worldwide in literature, though it is believed to be under-diagnosed. Families can feel isolated and many welcome the opportunity to speak with others in the same situation, wherever in the world, in whatever language. Our aim is to provide a support group network in order to facilitate communications between those families
R(20) can be present in mosaic or non-mosaic form, with non-mosaic patients appearing to be more severly affected by the disease. Though a genetic condition, age of onset of seizures is varied amongst patients.
There is no specific treatment that appears to be successful in controlling seizures; families are keen to be aware of and/or partake or help fund research projects into r(20).
Sky Sport Racing interview with Hayley Moore Family Fun Day, Brighton Racecourse
Live TV interview from the Ring20 sponsored Family Fun Day, Brighton Racecourse
Просмотров: 124
Видео
UNRAVEL: Genomics - What a genome looks like
Просмотров 313 месяца назад
Here we present a clip from our Ring20 Families Conference 2022 from David Bentley's presentation describing what a genome looks like and how looking at the genomes of people with r(20) might help us understand what has gone wrong.
Genomics: A new way of looking at r20 that hasn't happened before
Просмотров 123 месяца назад
Genomics: A new way of looking at r20 that hasn't happened before
The Ring20 Research Strategy and where we are on the journey
Просмотров 41Год назад
The Ring20 Research Strategy and where we are on the journey
Ring20 services, Highlights of the last year, Future goals, AGM 2022
Просмотров 19Год назад
Ring20 services, Highlights of the last year, Future goals, AGM 2022
Meet the Ring20 Champions
Просмотров 18Год назад
Shirlene Badger - Global Patient Advocacy Lead, Illumina Inc
From DNA to genomes: what is possible for r(20) - David Bentley
Просмотров 89Год назад
Dr David Bentley OBE - Chief Scientist, Illumina
Rare Disease research and how you can participate in the UK - Hannah Stark, NIHR Bioresource
Просмотров 19Год назад
Rare Disease research and how you can participate in the UK - Hannah Stark, NIHR Bioresource
Understanding your r(20) diagnosis - Isobel Turbin, Genetic Counsellor
Просмотров 41Год назад
Understanding your r(20) diagnosis - Isobel Turbin, Genetic Counsellor
Alternative therapies and CBD use in r(20) syndrome - Lydia Vassallo
Просмотров 35Год назад
Alternative therapies and CBD use in r(20) syndrome - Lydia Vassallo
Overview of Ring14 International: a model for Ring20? - Marco Crimi
Просмотров 13Год назад
Overview of Ring14 International: a model for Ring20? - Marco Crimi
Ring20 Families Conference 2022 - what our families say...
Просмотров 23Год назад
Ring20 Families Conference 2022 - what our families say...
Listening to or ring20 community and responding to your needs...
Просмотров 8Год назад
Ideas and suggestions for Ring20 services. Feedback from our Ring20 Families community on what you want and need from our services going forwards. Your input will help shape Ring20 for the future.
Reaching out to our Ring20 families in North America
Просмотров 10Год назад
Junko Okuda, Ring20 Champion for North America and Japan tells us how she's trying to connect families in the USA and Canada
New, emerging treatments for epilepsy - what hope for r(20) syndrome?
Просмотров 69Год назад
New, emerging treatments for epilepsy - what hope for r(20) syndrome?
What exactly is r(20) syndrome? (Ring20 Animation)
Просмотров 8702 года назад
What exactly is r(20) syndrome? (Ring20 Animation)
14 Mosaicism in r(20) syndrome - non-mosaic r(20)
Просмотров 1342 года назад
14 Mosaicism in r(20) syndrome - non-mosaic r(20)
My daugther also has ring 20 chromosome syndrome and we are from philippines
Hi Marnellly - great that you’ve found our RUclips channel. If you wanted to find out more about the latest information and forthcoming research keep checking our website: ring20researchsupport.co.uk/for-families/ or follow us on social media - you can also sign up to receive our regular enewsletter. I am very sorry to hear about your daughter's diagnosis. I offer to connect with newly diagnosed families to see how we may help at Ring20. It is helpful if you can complete our sign-up form so I have a few details about you first here: eepurl.com/c7DNST Many thanks and I look forward to connecting with you... Kind regards Allison CEO/cofounder Ring20 Research and Support UK CIO
Thanks to your channel
Very informative. Well done
Obrigado
Thanks for sharing! Hugs from Brazil!