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

4 weeks ago

Cure DRPLA
Welcome Elisa Martelletti to the team!We are delighted to welcome Dr Elisa Martelletti to Ataxia UK as a Research Manager on a fixed-term contract.In this role, Elisa will support the partnership between Ataxia UK and CureDRPLA and contribute to the ongoing DRPLA Research Programme, fostering collaboration among clinicians, patient organizations, researchers, and industry partners to help advance therapeutic development. She will also support the CureDRPLA Global Patient Registry and engage with the DRPLA community through awareness and social media activities.Elisa brings more than 12 years of experience in biomedical research. Following a PhD in Neuroscience and postdoctoral research at King's College London, she continued there as a Research Fellow, working on a charity-funded project investigating age-related hearing loss and inflammation. Alongside her research career, Elisa has been committed to promoting inclusive and equitable workplace cultures and making science more accessible to wider audiences.We are excited to have Elisa join the team and look forward to the contributions she will make in strengthening collaboration across the DRPLA community and supporting ongoing efforts to accelerate research and therapeutic development. ...
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Cure DRPLA

1 month ago

Cure DRPLA
Hello everyone,We've recently been in touch with Telethon Italia, which is one of the largest biomedical charities in Italy, entirely dedicated to financing and advancing scientific research to find cures for rare genetic diseases. There may be an opportunity to help raise awareness of DRPLA in Italy.If your family is affected by DRPLA and you are based in Italy, or have Italian family connections, we'd love to hear from you. Please send us a message at emartelletti@ataxia.org.uk or comment below.Thank you! ...
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join drpla

์˜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.