CureDRPLAグローバル患者登録サイトが公開されました!

DRPLAとは?

歯状核赤核淡蒼球ルイ体萎縮症は不随意運動、情緒障害、思考能力の低下を引き起こす進行性の脳疾患で、一般にDRPLAとして知られています。DRPLAの平均発症年齢は30歳ですが、この病気は乳児期から中年期まで、どの年齢でも発症する可能性があります。

cureDRPLAとは?

CureDRPLAは、ポール・コンプトンとアンドレア・コンプトンにより設立されたアメリカを拠点とする非営利団体です。ポールとアンドレアには20188月にDRPLAと診断された息子がいます。CureDRPLAの使命はDRPLA研究を前進させるために家族、医師、科学研究者たちを結び付け、DRPLAの治療に向けて取り組むことです。本ウェブページはこの病気に罹患し、その治療法を見つけ出すことに興味を持っている私たち以外の方々を探し出すために作成しました。

CureDRPLA
Global
Patient
Registry

CureDRPLAグローバル患者登録は世界的なDRPLA患者レジストリです。

本レジストリは世界中のDRPLA患者の人口統計学的情報および臨床情報を収集します。すべてのDRPLA患者の情報を収集することで、CureDRPLAグローバル患者レジストリは研究の強力なリソースとなり、治療法開発の機会を増やすことができます。

Patient & Caregiver

CureDRPLAがDRPLAの治療法を見つけ出すためにこれまでに行ったこと、そして現在行っていることを紹介しています。DRPLAだけに焦点を当てたYouTubeチャンネルだけでなく、DRPLAのオンラインリソースやサポート組織の情報もあります。

CureDRPLAがDRPLAの治療法を見つけ出すためにこれまでに行ったこと、そして現在行っていることを紹介しています。DRPLAだけに焦点を当てたYouTubeチャンネルだけでなく、DRPLAのオンラインリソースやサポート組織の情報もあります。

Patient &
Caregiver

Researcher
& Industry

CureDRPLAは、DRPLAの新規治療法が迅速に開発されることを願って、多くのプロジェクトに投資しています。資金提供情報、前臨床プロジェクトのリスト、その他の取り組みについては、こちらをご覧ください。

最新情報

2 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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3 weeks 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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2 months ago

Cure DRPLA
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. ...
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3 months ago

Cure DRPLA
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 ...
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DRPLAコミュニティに参加する

CureDRPLAでは、患者、ファミリー、臨床医、研究者と、より進んだDRPLAの研究を結び付け、DRPLAの治療に向けた取り組みを行っています。Rare Connectのページへ進むと、コミュニティに参加することができます。 コミュニティの詳細情報にご興味のある方は是非我々へお問い合わせください。