Cos’è la DRPLA ?

L’atrofia dentato-rubro-pallido-luisiana, comunemente nota come DRPLA, è una malattia neurodegenerativa progressiva che causa disturbi del movimento involontario, problemi mentali ed emotivi e un declino del pensiero. L’età media di insorgenza della DRPLA è di 30 anni, ma questa condizione può comparire in qualsiasi momento dall’infanzia alla metà dell’età adulta.

Cos’è la CureDRPLA ?

CureDRPLA è un’organizzazione no-profit statunitense fondata da Paul e Andrea Compton. Paul e Andrea hanno un figlio a cui è stata diagnosticata la DRPLA nell’agosto 2018. La missione di CureDRPLA è di connettere famiglie, medici e ricercatori scientifici per promuovere la ricerca sulla DRPLA per trovare una cura. Questa pagina web è stata creata per trovare le persone che hanno questa condizione e sono interessati a trovare una cura.

Registro
globale
dei pazienti
CureDRPLA

Il registro globale dei pazienti CureDRPLA è un registro che raccoglie i pazienti DRPLA di tutto il mondo.

Questo registro raccoglie le informazioni demografiche e cliniche sui pazienti DRPLA di tutto il mondo. Raccogliendo informazioni su tutti i pazienti con DRPLA, il registro globale dei pazienti CureDRPLA sarà una risorsa potente per la ricerca e aumenterà le opportunità di sviluppo del trattamento.

Registro dei pazienti

Paziente e Caregiver

Fai clic qui sotto per scoprire cosa ha fatto CureDRPLA e cosa stiamo facendo attualmente per trovare un trattamento per la DRPLA. Troverai anche risorse online e organizzazioni di supporto per la DRPLA, nonché canali YouTube specificamente incentrati sulla DRPLA.

Paziente e Caregiver

Fai clic qui sotto per scoprire cosa ha fatto CureDRPLA e cosa stiamo facendo attualmente per trovare un trattamento per la DRPLA. Troverai anche risorse online e organizzazioni di supporto per la DRPLA, nonché canali YouTube specificamente incentrati sulla DRPLA.

Paziente e Caregiver

Paziente e
Caregiver

Ricercatori
e settore

CureDRPLA sta investendo in una serie di progetti nella speranza di sviluppare rapidamente nuove terapie per la DRPLA. Informazioni sulle opportunità di finanziamento, un elenco dei nostri progetti preclinici e altri sforzi possono essere trovati qui.

Ricerca e Settore

ultimo

Cure DRPLA

2 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

1 week 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

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. ...

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)

Unisciti alla nostra comunità DRPLA oggi

A CureDRPLA, mettiamo in contatto pazienti, famiglie, medici e ricercatori per promuovere la ricerca sulla DRPLA e lavorare verso una cura per la DRPLA. Puoi unirti alla nostra comunità andando su Rare Connect. Per maggiori informazioni sulla nostra comunità, contattaci.

Il registro globale dei pazienti CureDRPLA è disponibile!

Cos’è la DRPLA ?

Cos’è la CureDRPLA ?

Il registro globale dei pazienti CureDRPLA è un registro che raccoglie i pazienti DRPLA di tutto il mondo.

ultimo

Unisciti alla nostra comunità DRPLA oggi

Andrea Compton

Paul Compton