DRPLA란 무엇입니까?

일반적으로 DRPLA로 알려진 담창구 시상하부 위측증은 불수의적인 운동, 정신적 정서적 질환, 그리고 사고 능력의 저하를 야기하는 진행성 뇌질환입니다. DRPLA의 평균 발병 연령은 30세이지만, 이 질환은 유아기에서 중년기까지 언제든지 발생할 수 있습니다.

CureDRPLA란 무엇입니까?

CureDRPLA는 피울과 안드레아 콤프턴이 설립한 미국 기반의 비영리 단체입니다. 파울과 안드레아에게는 2018년 8월에 DRPLA 진단을 받은 아들이 있습니다. CureDRPLA는 가족, 의사 및 과학 연구자를 추가적인 DRPLA 연구와 DRPLA 치료를 위한 작업에 연결하는 것을 사명으로 합니다. 이 웹 페이지는 이러한 질환을 가지고 있으며 해당 치료법을 찾고자 하는 다른 환자를 찾기 위해 개발되었습니다.

CureDRPLA
글로벌
환자
등록부

CureDRPLA 글로벌 환자 등록부는 DRPLA 환자들에 대한 세계적 범위의 등록부입니다.

이 등록부에서는 전 세계 DRPLA 환자에 대한 인구학적 통계 및 임상 정보를 수집합니다. CureDRPLA 글로벌 환자 등록부는 모든 DRPLA 환자에 대한 정보를 수집함으로써 강력한 연구 자료가 될 것이며 치료법 개발 기회를 강화할 것입니다.

환자 등록부

환자와 간병인

아래를 클릭하여 CureDRPLA가 어떤 일을 수행했으며 현재 DRPLA 치료를 위해 무엇을 하고 있는지 알아보십시오. 또한 DRPLA에 대한 온라인 리소스와 지원 조직 및 DRPLA를 특별히 다룬 유튜브 채널도 확인할 수 있습니다.

환자와 간병인

아래를 클릭하여 CureDRPLA가 어떤 일을 수행했으며 현재 DRPLA 치료를 위해 무엇을 하고 있는지 알아보십시오. 또한 DRPLA에 대한 온라인 리소스와 지원 조직 및 DRPLA를 특별히 다룬 유튜브 채널도 확인할 수 있습니다.

환자와 간병인

연구자와
산업

CureDRPLA는 DRPLA에 대한 새로운 치료법을 신속하게 개발하기 위한 바램으로 여러 프로젝트에 투자하고 있습니다. 여기에서 자금 지원 기회에 대한 정보, 사전 임상 프로젝트 목록 및 기타 노력의 결과를 확인할 수 있습니다.

연구와 산업

최신

Cure DRPLA

6 days ago

Connecting with the Japanese DRPLA community at the annual meeting of the Japanese Society of NeurologyAt the Annual Meeting of the Japanese Society of Neurology, CureDRPLA Advisory Board Member Junko Shiozawa represented the DRPLA Family Network (DFN), engaging with clinicians and researchers to raise awareness of DRPLA. She also met with pharmaceutical companies developing new treatments, gaining insight into their research efforts. Her work helps strengthen collaboration among families, researchers, clinicians, and industry partners in Japan, supporting progress for the global DRPLA community. ... See MoreSee Less

Connecting with the Japanese DRPLA Community at the Annual Meeting of the Japanese Society of Neurology in Yokohama - CureDRPLA

curedrpla.org

Junko Shiozawa, Advisory Board Member for CureDRPLA, has played an important role in bringing together Japanese people living with DRPLA and their families. Through her leadership within the DRPLA Fam...

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Cure DRPLA

2 weeks ago

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. ... See MoreSee Less

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Cure DRPLA

3 weeks ago

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! ... See MoreSee Less

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Cure DRPLA

2 months ago

In March we reported that Prof Jeff Carroll, our longstanding Scientific Advisor, resigned to pursue new opportunities. CureDRPLA is committed to keeping our team strong and ensuring we have the right scientific input to advance research towards treatments. With that in mind, we are pleased to announce that we have appointed Dr Joanna (Asia) Korecka-Roet as a Scientific Advisor for CureDRPLA. Dr Asia Korecka-Roet is an Assistant Professor at the Neurology Department at Mass General Brigham (Boston, US). Her research specializes in validating and de-risking genetic medicine for neurodegenerative disorders. She brings years of experience in DRPLA research, having developed advanced patient-derived cell lines for studying DRPLA in the dish. She has used these lines to screen ASOs for DRPLA, as well as to study epilepsy and test whether ASOs can rescue seizure-like behavior in cells. Asia joins Prof Darren Monckton, who is also a Scientific Advisor for CureDRPLA. Darren is a Professor of Human Genetics at the University of Glasgow (UK). His expertise is on repeat expansion disorders like DRPLA, in which some parts of the DNA are unusually long and unstable, which can worsen over time and generations. His research group is working to understand why this happens by studying human samples, lab models and computer simulations. ... See MoreSee Less

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Cure DRPLA

3 months ago

If you missed the “Research and Treatment Development for DRPLA” webinar we co-hosted with NAF on May 21, you can now watch the recording on Youtube. This session was presented by Dr Silvia Prades who works at CureDRPLA and Ataxia UK ... See MoreSee Less

Research and Treatment Development for DRPLA

youtu.be

During this session, our expert will teach us how DRPLA is studied ...

Video

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오늘 당사의 DRPLA 커뮤니티에 가입하세요

CureDRPLA에서는 환자, 가족, 임상의 및 연구자를 DRPLA에 대한 추가 연구와 DRPLA 치료를 위한 작업에 연결합니다. 귀하는 Rare Connect를 방문하여 당사 커뮤니티에 가입하실 수 있습니다. 당사 커뮤니티에 대한 자세한 정보를 원하시면, 저희에게 연락해주십시오.

CureDRPLA 글로벌 환자 등록부를 사용하실 수 있습니다!

DRPLA란 무엇입니까?

CureDRPLA란 무엇입니까?

CureDRPLA 글로벌 환자 등록부는 DRPLA 환자들에 대한 세계적 범위의 등록부입니다.

최신

오늘 당사의 DRPLA 커뮤니티에 가입하세요

안드레아 콤프턴
(Andrea Compton)

파울 콤프턴
(Paul Compton)