O que é DRPLA?

A atrofia dentatorubro-palidoluisiana, conhecida por DRPLA, é uma perturbação cerebral que causa movimentos involuntários, problemas emocionais e um declínio da capacidade de raciocínio. A idade média dos primeiros sintomas de DRPLA é 30 anos, mas esta doença pode manifestar-se a qualquer momento, desde a infância até à idade adulta.

O que é a CureDRPLA?

A CureDRPLA é uma organização sem fins lucrativos baseada nos EUA fundada por Paul e Andrea Compton. O Paul e a Andrea têm um filho que foi diagnosticado com DRPLA em agosto de 2018. A missão da CureDRPLA é estabelecer uma ligação entre famílias, médicos e investigadores científicos para ajudar no progresso de investigação da DRPLA e trabalhar em direção a um tratamento para a DRPLA. Este website foi criado para encontrar outros que sofrem desta doença e estão interessados em encontrar uma cura.

Registo
Global
de Doentes
da CureDRPLA

O Registo Global de Doentes da CureDRPLA é um registo mundial de pessoas com DRPLA.

Este registo reune informação clínica e demográfica sobre doentes DRPLA desde todas as partes do mundo. Com a recolha de informação sobre todos os doentes com DRPLA, o Registo Global de Doentes da CureDRPLA será um recurso potente para a investigação e vai reforçar as oportunidades para o desenvolvimento do tratamento.

REGISTRO DE Doente

Doente &
Prestador de Cuidados

Clique abaixo para saber o que a CureDRPLA tem feito e o que estamos a fazer para encontrar um tratamento para DRPLA. Vai também encontrar recursos online e organizações de apoio para a DRPLA, assim como canais do YouTube especificamente focados na DRPLA.

Doente & Prestador de Cuidados

Clique abaixo para saber o que a CureDRPLA tem feito e o que estamos a fazer para encontrar um tratamento para DRPLA. Vai também encontrar recursos online e organizações de apoio para a DRPLA, assim como canais do YouTube especificamente focados na DRPLA.

Doente & Prestador de Cuidados

Doente &
Prestador de Cuidados

Investigador
& Indústria

A CureDRPLA está a investir num número de projetos na esperança de desenvolver novas terapêuticas rapidamente para a DRPLA. Aqui vai poder encontrar informação sobre oportunidades de financiamento, uma lista dos nossos projetos pré-clínicos, assim como de outras tentativas.

Investigação & Indústria

Mais recente

Cure DRPLA

4 days ago

The DRPLA Center of Excellence accreditation recognizes neurologists who provide expert clinical care and understand the various needs of those diagnosed with DRPLA. In addition, the Centers must have an ongoing interest in research into DRPLA.Over the past year, this recognition has helped the University of North Carolina DRPLA Center of Excellence strengthen its reputation as a trusted source of expertise for people with DRPLA, families, and healthcare professionals seeking guidance on this rare condition. One of the clearest impacts of the accreditation has been the growing number of enquiries from healthcare professionals and families seeking support. ...

The value of DRPLA Centre of Excellence accreditation - CureDRPLA

curedrpla.org

Being recognized as a DRPLA Centre of Excellence is about much more than a title. In addition to providing expert clinical care and identifying the various needs of those diagnosed with DRPLA, the Cen...

View on Facebook (opens in a new tab)

Cure DRPLA

2 weeks 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. ...

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...

View on Facebook (opens in a new tab)

Cure DRPLA

3 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. ...

View on Facebook (opens in a new tab)

Cure DRPLA

4 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! ...

View on Facebook (opens in a new tab)

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. ...

View on Facebook (opens in a new tab)

Junte-se à nossa Comunidade DRPLA Hoje

Na CureDRPLA, conectamos doentes, famílias, profissionais da saúde e investigadores para progredir a investigação dobre a DRPLA e trabalhar em direção ao tratamento da DRPLA. Pode juntar-se à nossa comunidade indo para Rare Connect. Para mais informação sobre a nossa comunidade, entre em contacto connosco.

Está disponível o Registo Global de Doentes da CureDRPLA!

O que é DRPLA?

O que é a CureDRPLA?

O Registo Global de Doentes da CureDRPLA é um registo mundial de pessoas com DRPLA.

Mais recente

Junte-se à nossa Comunidade DRPLA Hoje

Andrea Compton

Paul Compton