cure drpla

CureDRPLA ๊ธ€๋กœ๋ฒŒ ํ™˜์ž ๋“ฑ๋ก๋ถ€๋ฅผ ์‚ฌ์šฉํ•˜์‹ค ์ˆ˜ ์žˆ์Šต๋‹ˆ๋‹ค!

๊ธ€๋กœ๋ฒŒ ํ™˜์ž ๋“ฑ๋ก๋ถ€์— ๊ฐ€์‹œ๋ ค๋ฉด ์—ฌ๊ธฐ๋ฅผ ํด๋ฆญํ•˜์‹ญ์‹œ์˜ค

DRPLA๋ž€ ๋ฌด์—‡์ž…๋‹ˆ๊นŒ?

์ผ๋ฐ˜์ ์œผ๋กœ DRPLA๋กœ ์•Œ๋ ค์ง„ ๋‹ด์ฐฝ๊ตฌ ์‹œ์ƒํ•˜๋ถ€ ์œ„์ธก์ฆ์€ ๋ถˆ์ˆ˜์˜์ ์ธ ์šด๋™, ์ •์‹ ์  ์ •์„œ์  ์งˆํ™˜, ๊ทธ๋ฆฌ๊ณ  ์‚ฌ๊ณ  ๋Šฅ๋ ฅ์˜ ์ €ํ•˜๋ฅผ ์•ผ๊ธฐํ•˜๋Š” ์ง„ํ–‰์„ฑ ๋‡Œ์งˆํ™˜์ž…๋‹ˆ๋‹ค. DRPLA์˜ ํ‰๊ท  ๋ฐœ๋ณ‘ ์—ฐ๋ น์€ 30์„ธ์ด์ง€๋งŒ, ์ด ์งˆํ™˜์€ ์œ ์•„๊ธฐ์—์„œ ์ค‘๋…„๊ธฐ๊นŒ์ง€ ์–ธ์ œ๋“ ์ง€ ๋ฐœ์ƒํ•  ์ˆ˜ ์žˆ์Šต๋‹ˆ๋‹ค.

CureDRPLA๋ž€ ๋ฌด์—‡์ž…๋‹ˆ๊นŒ?

CureDRPLA๋Š” ํ”ผ์šธ๊ณผ ์•ˆ๋“œ๋ ˆ์•„ ์ฝคํ”„ํ„ด์ด ์„ค๋ฆฝํ•œ ๋ฏธ๊ตญ ๊ธฐ๋ฐ˜์˜ ๋น„์˜๋ฆฌ ๋‹จ์ฒด์ž…๋‹ˆ๋‹ค. ํŒŒ์šธ๊ณผ ์•ˆ๋“œ๋ ˆ์•„์—๊ฒŒ๋Š” 2018๋…„ 8์›”์— DRPLA ์ง„๋‹จ์„ ๋ฐ›์€ ์•„๋“ค์ด ์žˆ์Šต๋‹ˆ๋‹ค. CureDRPLA๋Š” ๊ฐ€์กฑ, ์˜์‚ฌ ๋ฐ ๊ณผํ•™ ์—ฐ๊ตฌ์ž๋ฅผ ์ถ”๊ฐ€์ ์ธ DRPLA ์—ฐ๊ตฌ์™€ DRPLA ์น˜๋ฃŒ๋ฅผ ์œ„ํ•œ ์ž‘์—…์— ์—ฐ๊ฒฐํ•˜๋Š” ๊ฒƒ์„ ์‚ฌ๋ช…์œผ๋กœ ํ•ฉ๋‹ˆ๋‹ค. ์ด ์›น ํŽ˜์ด์ง€๋Š” ์ด๋Ÿฌํ•œ ์งˆํ™˜์„ ๊ฐ€์ง€๊ณ  ์žˆ์œผ๋ฉฐ ํ•ด๋‹น ์น˜๋ฃŒ๋ฒ•์„ ์ฐพ๊ณ ์ž ํ•˜๋Š” ๋‹ค๋ฅธ ํ™˜์ž๋ฅผ ์ฐพ๊ธฐ ์œ„ํ•ด ๊ฐœ๋ฐœ๋˜์—ˆ์Šต๋‹ˆ๋‹ค.


CureDRPLA
๊ธ€๋กœ๋ฒŒ
ํ™˜์ž
๋“ฑ๋ก๋ถ€

CureDRPLA ๊ธ€๋กœ๋ฒŒ ํ™˜์ž ๋“ฑ๋ก๋ถ€๋Š” DRPLA ํ™˜์ž๋“ค์— ๋Œ€ํ•œ ์„ธ๊ณ„์  ๋ฒ”์œ„์˜ ๋“ฑ๋ก๋ถ€์ž…๋‹ˆ๋‹ค.

์ด ๋“ฑ๋ก๋ถ€์—์„œ๋Š” ์ „ ์„ธ๊ณ„ DRPLA ํ™˜์ž์— ๋Œ€ํ•œ ์ธ๊ตฌํ•™์  ํ†ต๊ณ„ ๋ฐ ์ž„์ƒ ์ •๋ณด๋ฅผ ์ˆ˜์ง‘ํ•ฉ๋‹ˆ๋‹ค. CureDRPLA ๊ธ€๋กœ๋ฒŒ ํ™˜์ž ๋“ฑ๋ก๋ถ€๋Š” ๋ชจ๋“  DRPLA ํ™˜์ž์— ๋Œ€ํ•œ ์ •๋ณด๋ฅผ ์ˆ˜์ง‘ํ•จ์œผ๋กœ์จ ๊ฐ•๋ ฅํ•œ ์—ฐ๊ตฌ ์ž๋ฃŒ๊ฐ€ ๋  ๊ฒƒ์ด๋ฉฐ ์น˜๋ฃŒ๋ฒ• ๊ฐœ๋ฐœ ๊ธฐํšŒ๋ฅผ ๊ฐ•ํ™”ํ•  ๊ฒƒ์ž…๋‹ˆ๋‹ค.

ํ™˜์ž ๋“ฑ๋ก๋ถ€

ํ™˜์ž์™€ ๊ฐ„๋ณ‘์ธ

์•„๋ž˜๋ฅผ ํด๋ฆญํ•˜์—ฌ CureDRPLA๊ฐ€ ์–ด๋–ค ์ผ์„ ์ˆ˜ํ–‰ํ–ˆ์œผ๋ฉฐ ํ˜„์žฌ DRPLA ์น˜๋ฃŒ๋ฅผ ์œ„ํ•ด ๋ฌด์—‡์„ ํ•˜๊ณ  ์žˆ๋Š”์ง€ ์•Œ์•„๋ณด์‹ญ์‹œ์˜ค. ๋˜ํ•œ DRPLA์— ๋Œ€ํ•œ ์˜จ๋ผ์ธ ๋ฆฌ์†Œ์Šค์™€ ์ง€์› ์กฐ์ง ๋ฐ DRPLA๋ฅผ ํŠน๋ณ„ํžˆ ๋‹ค๋ฃฌ ์œ ํŠœ๋ธŒ ์ฑ„๋„๋„ ํ™•์ธํ•  ์ˆ˜ ์žˆ์Šต๋‹ˆ๋‹ค.

ํ™˜์ž์™€ ๊ฐ„๋ณ‘์ธ

์•„๋ž˜๋ฅผ ํด๋ฆญํ•˜์—ฌ CureDRPLA๊ฐ€ ์–ด๋–ค ์ผ์„ ์ˆ˜ํ–‰ํ–ˆ์œผ๋ฉฐ ํ˜„์žฌ DRPLA ์น˜๋ฃŒ๋ฅผ ์œ„ํ•ด ๋ฌด์—‡์„ ํ•˜๊ณ  ์žˆ๋Š”์ง€ ์•Œ์•„๋ณด์‹ญ์‹œ์˜ค. ๋˜ํ•œ DRPLA์— ๋Œ€ํ•œ ์˜จ๋ผ์ธ ๋ฆฌ์†Œ์Šค์™€ ์ง€์› ์กฐ์ง ๋ฐ DRPLA๋ฅผ ํŠน๋ณ„ํžˆ ๋‹ค๋ฃฌ ์œ ํŠœ๋ธŒ ์ฑ„๋„๋„ ํ™•์ธํ•  ์ˆ˜ ์žˆ์Šต๋‹ˆ๋‹ค.

ํ™˜์ž์™€ ๊ฐ„๋ณ‘์ธ
ํ™˜์ž์™€ ๊ฐ„๋ณ‘์ธ
์—ฐ๊ตฌ์ž์™€
์‚ฐ์—…

CureDRPLA๋Š” DRPLA์— ๋Œ€ํ•œ ์ƒˆ๋กœ์šด ์น˜๋ฃŒ๋ฒ•์„ ์‹ ์†ํ•˜๊ฒŒ ๊ฐœ๋ฐœํ•˜๊ธฐ ์œ„ํ•œ ๋ฐ”๋žจ์œผ๋กœ ์—ฌ๋Ÿฌ ํ”„๋กœ์ ํŠธ์— ํˆฌ์žํ•˜๊ณ  ์žˆ์Šต๋‹ˆ๋‹ค. ์—ฌ๊ธฐ์—์„œ ์ž๊ธˆ ์ง€์› ๊ธฐํšŒ์— ๋Œ€ํ•œ ์ •๋ณด, ์‚ฌ์ „ ์ž„์ƒ ํ”„๋กœ์ ํŠธ ๋ชฉ๋ก ๋ฐ ๊ธฐํƒ€ ๋…ธ๋ ฅ์˜ ๊ฒฐ๊ณผ๋ฅผ ํ™•์ธํ•  ์ˆ˜ ์žˆ์Šต๋‹ˆ๋‹ค.

์—ฐ๊ตฌ์™€ ์‚ฐ์—…

์ตœ์‹ 

Cure DRPLA

3 days ago

Cure DRPLA
The Ataxia UK Helpline services are available for people with DRPLA living in the UK The Helpline is a resource and support hub for people who are affected by ataxias, including DRPLA. As well as providing support and information around diagnosis, treatment and living with ataxia, there is a range of other issues they can help with, including: benefits, housing, finances, care needs, health needs, mental health, end of life care, aid and adaptations, transport and travel, employment, education and accessing grants. If you would like to find out more about the Helpline, or talk to a member of the team, please get in touch by calling 0800 995 6037 or by emailing help@ataxia.org.uk.curedrpla.org/en/2026/02/09/the-ataxia-uk-helpline-services-are-available-for-people-with-drpla/ For those outside the UK: If you do not live in the UK and would like support in these areas, please contact CureDRPLA at info@curedrpla.org. We might be able to signpost you to other organizations or resources that are tailored to your country and needs. ... See MoreSee Less
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Cure DRPLA

3 weeks ago

Cure DRPLA
CureDRPLA awards DRPLA Centers of Excellence accreditations to those neurologists who have experience in DRPLA care and commit to supporting our work. In addition to providing expert clinical care and identifying the various needs of those diagnosed with DRPLA, this initiative also aims to help families more easily identify clinical experts in DRPLA for their healthcare needs.Once a center has been accredited, we reach out each year to gather an update on how their clinic is progressing and whether the accreditation has had an impact. It was encouraging to see that our accreditations may already be making a difference:โ€ข Eight more people with DRPLA were diagnosed over the last year by Dr Gan at The First Affiliated Hospital in China. โ€ข Two additional families with DRPLA visited Dr Jee-Young Leeโ€™s and Dr Ryul Kimโ€™s clinic at the SMG-SNU Boramae Medical Center in South Korea. They are also seeing an increase in contacts from physicians at other hospitals who want to refer people with DRPLA to this center. ... See MoreSee Less
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Cure DRPLA

3 weeks ago

Cure DRPLA
UK medicines regulator publishes plans to reform medicines regulatory systems for rare diseases Existing medicines regulatory processes do not consider the challenges that accompany treatment development for rare diseases. The regulatory body for medicines in the UK has recognized this and is planning a major change by proposing a new framework for rare diseases. Our partner organization, Ataxia UK, has written about these changes and invite you to familiarize yourself with what is expected in this new framework when it comes into place www.ataxia.org.uk/research-news/mhra-publishes-plans-to-reform-medicines-regulatory-systems-for-r... ... See MoreSee Less
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Cure DRPLA

4 weeks ago

Cure DRPLA
We recorded our annual update so you can watch it at your own pace. It includes updates on our organization, N-of-1 trials, DRPLA Natural History and Biomarkers Study, Patient Registry and other relevant news and projects. If you have any questions about the topics covered in this talk, please reach out. www.youtube.com/watch?v=3xwC0ZSTxwo ... See MoreSee Less
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์˜ค๋Š˜ ๋‹น์‚ฌ์˜ DRPLA ์ปค๋ฎค๋‹ˆํ‹ฐ์— ๊ฐ€์ž…ํ•˜์„ธ์š”

CureDRPLA์—์„œ๋Š” ํ™˜์ž, ๊ฐ€์กฑ, ์ž„์ƒ์˜ ๋ฐ ์—ฐ๊ตฌ์ž๋ฅผ DRPLA์— ๋Œ€ํ•œ ์ถ”๊ฐ€ ์—ฐ๊ตฌ์™€ DRPLA ์น˜๋ฃŒ๋ฅผ ์œ„ํ•œ ์ž‘์—…์— ์—ฐ๊ฒฐํ•ฉ๋‹ˆ๋‹ค. ๊ท€ํ•˜๋Š” Rare Connect๋ฅผ ๋ฐฉ๋ฌธํ•˜์—ฌ ๋‹น์‚ฌ ์ปค๋ฎค๋‹ˆํ‹ฐ์— ๊ฐ€์ž…ํ•˜์‹ค ์ˆ˜ ์žˆ์Šต๋‹ˆ๋‹ค. ๋‹น์‚ฌ ์ปค๋ฎค๋‹ˆํ‹ฐ์— ๋Œ€ํ•œ ์ž์„ธํ•œ ์ •๋ณด๋ฅผ ์›ํ•˜์‹œ๋ฉด, ์ €ํฌ์—๊ฒŒ ์—ฐ๋ฝํ•ด์ฃผ์‹ญ์‹œ์˜ค.