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Proyectos premiados de nuestra Convocatoria 2020 de Proyectos Innovadores de Investigación en Terapias Avanzadas para el Síndrome de Dravet

Nos complace anunciar los proyectos seleccionados de nuestra Convocatoria 2020 de Proyectos Innovadores de Investigación en Terapias Avanzadas para el Síndrome de Dravet.

El Dr. Rubén Hernández-Alcoceba y el Dr. Massimo Mantegazza han sido seleccionados por el Comité Científico de la Fundación Síndrome de Dravet como beneficiarios de dos becas para el desarrollo de sus prometedores estudios preclínicos de terapias innovadoras para el síndrome de Dravet.

Ambos proyectos de investigación comenzarán a más tardar el 1 de septiembre de 2021, y la cantidad concedida para esta convocatoria es de más de 135 mil euros, que es de la mayor convocatoria de investigación de una sola organización europea Dravet. ¡Enhorabuena a ambos!

Rubén Hernández-Alcoceba es un científico de la Fundación para la Investigación Médica Aplicada (FIMA) en Pamplona, España. Él y su equipo del Programa de Terapia Génica han sido premiados con una beca de 2 años de la Fundación Síndrome de Dravet para el desarrollo de un proyecto de investigación titulado “Reducción de las respuestas inflamatorias contra los vectores adenovirales para mejorar la seguridad y eficacia de la terapia génica para el síndrome de Dravet (RIRADS)”.

Rubén Hernández-Alcoceba

Más información sobre el proyecto RIRADS aquí👇

Las mutaciones heterocigotas en el gen SCN1A son la base genética de casi el 90% de los casos de síndrome de Dravet (SD). La producción insuficiente de canales Nav1.1 funcionales en las interneuronas inhibidoras es actualmente el mecanismo fisiopatológico más aceptado. Este descubrimiento ha impulsado el desarrollo de diferentes enfoques destinados a aumentar la cantidad de Nav1.1 funcional en el cerebro. La transferencia de una copia correcta de la secuencia codificante del gen SCN1A a las neuronas mediante vectores de terapia génica puede alcanzar este objetivo sin necesidad de la expresión de proteínas extrañas ni de administraciones repetidas.

Los vectores adenovirales de alta capacidad (HC-AdV) son adecuados para este objetivo, y nuestros resultados preliminares proporcionan una prueba de concepto sobre el efecto terapéutico en un modelo de ratón de SD. Se están desarrollando nuevas versiones del vector para aumentar la eficacia y la seguridad de este enfoque. La estabilidad física y genética de los vectores adenovirales humanos permite el diseño racional de modificaciones destinadas a mejorar su especificidad y reducir las respuestas inflamatorias, que es el principal inconveniente de este tipo de vectores.

En este proyecto se estudiará la inflamación inducida por el vector en el contexto particular de los ratones con SD, y cómo este proceso puede repercutir en las respuestas al tratamiento a largo plazo. Se proponen modificaciones complementarias en la cápside del adenovirus para evitar el reconocimiento y la captación de las partículas virales por parte de la microglía, que es un paso importante en la cascada inflamatoria.

Massimo Mantegazza es director de investigación y jefe de grupo en el Instituto de Farmacología Molecular y Celular (IPMC), CNRS y Universidad de la Costa Azul en Francia. Él y su equipo han recibido una beca de un año de la Fundación Síndrome de Dravet para el desarrollo de un proyecto de investigación titulado “Una novedosa respuesta homeostática potenciada como terapia para el síndrome de Dravet: tratamiento con la aplicación nasal de colecistoquinina de ingeniería (CCKTherapy)”.

Massimo Mantegazza

Más información sobre el proyecto CCKTherapy aquí👇

El síndrome de Dravet (SD) es en gran medida resistente a los fármacos, aunque algunos de ellos muestran algunos efectos. Las investigaciones actuales destinadas a corregir la mutación genética responsable de esta grave patología son prometedoras, pero se encuentran en fases preclínicas tempranas y pueden presentar varios problemas técnicos que podrían dificultar su traslado a la clínica. Por ello, es importante desarrollar paralelamente otros enfoques terapéuticos novedosos menos invasivos y arriesgados.

La mutación responsable del SD aumenta la excitabilidad de las redes neuronales al reducir la inhibición neuronal. Identificamos en un modelo de ratón de SD una respuesta fisiológica espontánea que corrige parcialmente este déficit aumentando la liberación de un péptido que actúa sobre las neuronas inhibidoras. Demostramos que este efecto rescata parcialmente la inhibición neuronal reducida y el fenotipo de los ratones con SD. Además, demostramos que potenciar esta respuesta tratando a los ratones con SD con una versión modificada de este péptido atenúa drásticamente las convulsiones por hipertermia. Los resultados preliminares también sugieren que el tratamiento crónico puede reducir las convulsiones espontáneas y la mortalidad. Curiosamente, este péptido ya se ha administrado con seguridad a seres humanos. En este proyecto completaremos el estudio de este nuevo enfoque terapéutico (evaluando tanto las convulsiones como las disfunciones del comportamiento), que podría traducirse rápidamente.

GRACIAS 💜
Mil gracias a todos los solicitantes por su interés en nuestra convocatoria. Todas las propuestas de investigación eran de una calidad y excelencia extraordinarias. Lamentablemente, no todos los proyectos pueden ser financiados, pero animamos encarecidamente a todos los solicitantes a esperar más oportunidades de colaboración con nosotros, ahora o en el futuro.

Un sueño, una meta.

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TERMS & CONDITIONS

The European Dravet Syndrome Advanced Therapies (EDSAT) Meeting 2022 is organised by Dravet Syndrome Foundation Spain, whose registered office is located at Calle Doctor Fleming, 30, 28036 Madrid, Spain.

The conference shall take place at the Illustrious Official College of Physicians of Madrid, at Calle de Santa Isabel, 51, 28012 Madrid, Spain, on Friday 1st of April 2022. Attendance to this conference is free of charge, but mandatory for organisational reasons. Participants must register online at www.dravetconference.com. Upon registration, each participant will receive an electronic confirmation by email. On-site registration will not be be possible. If a participant has not received the official email registration confirmation within 3 days, they must contact the conference secretariat at research@dravetfoundation.eu.

The conference registration includes: Attendance to all sessions, oral and visual presentations, all coffee and lunch breaks, and conference documentation with all information about the event. The registration does not comprise travelling and accommodation costs or any other personal expenses.

Admittance to the workshop without registration cannot be granted.

Conference Attendance
Upon arrival at the Illustrious Official College of Physicians of Madrid the day of the event, all participants have to register at the onsite Conference Registration Desk. The desk will open on 1st of April at 8:30 a.m. Upon registration onsite, the conference team will provide participants with information about the event and a badge, which should be worn visibly at all times. The personalised badge authorises participants to attend all conference sessions, and lunch and coffee breaks.

Cancellation Policy
Dravet Syndrome Foundation Spain reserves the right to cancel any registration forthwith and without liability on its part in the event of any damage to, or destruction of the venue by fire, shortage of labour, strikes, industrial unrest, public health measures, or any other cause beyond the control of the Dravet Syndrome Foundation Spain, which shall prevent it from performing its obligations. In these circumstances, every effort will be made to find an alternative format/venue or propose a new date for the conference. Should the conference be cancelled for any reason, airfares, hotels, or other costs incurred by the participants are not reimbursed by the Dravet Syndrome Foundation Spain.

Any participant is allowed to cancel his/her registration but must notify this to the conference organisers by e-mail at research@dravetfoundation.eu within a minimum of 10 days
prior the event. Failure to attend the event without prior written notification
by email may incur a no-show fee, which shall cover individual organizational,
material and catering costs.

Name Change
All registrations are only valid for the respective person mentioned in the form. A registered participant unable to attend the conference may nominate (free of charge) a substitute participant by notifying the conference organisers by email at research@dravetfoundation.eu before 24th of March 2022. The procedure allows giving the last name, first name, and email address of the new participant.

Personal Data
Upon registration, the participant authorises Dravet Syndrome Foundation Spain to use their personal data stated above to inform the participant of any further conferences, events, or information concerning the conference and Dravet Syndrome Foundation Spain’s activities. The conference booklet online will only contain authors, titles, and affiliations of submitted abstracts, but no full abstract texts. The conference printed booklet will contain full abstract texts from all participants. Conference certificates will be sent to the participants as a PDF document upon request at research@dravetfoundation.eu. Only the name & affiliation will be stated in the certificate, not the email addresses of the participants.

Information is collected by an automated computer system that manages registrations. Security and confidentiality are guaranteed by state-of-the-art technical tools. However, Dravet Syndrome Foundation Spain declines any responsibility concerning data security transmitted through the internet.

Photography
The conference is held in public; therefore, we do not ban participants, exhibitors, partners and other companies from taking photographs of conference activities and participants, and share it via social media. By participating in the conference, you approve that general pictures will be taken and used for our Social Media output, our websites and other communication purposes. You hereby waive any right to oppose, and expressly authorise the organiser to make them available on the Internet or as it may seem fit. Author’s presentation slides shall not be photographed by any conference participant.

Disclaimer
The conference organiser cannot be held responsible for any loss, injury or damage to any property, whatever the cause may be. Should, for any reason outside the organiser’s control (e.g., political or economic circumstances or a case of ‘force majeure’), the venue or speakers change, or the event be cancelled, the organiser will endeavour to reschedule, but shall not be held responsible for any costs, damages or expenses incurred by the participants. If for any reason the organiser decides to make material changes to this conference, the organiser is not responsible for airfares, hotels or other costs incurred by the participants. The participant takes part in the conference, all tours, and trips at his own risk.

Copyright
The participant is allowed to use the conference documentation exclusively for his/her personal needs.

TERMS & CONDITIONS

The Dravet Syndrome Conference 2022 is organised by Dravet Syndrome Foundation Spain, whose registered office is located at Calle Doctor Fleming, 30, 28036 Madrid, Spain.

The conference shall take place at the Illustrious Official College of Physicians of Madrid, at Calle de Santa Isabel, 51, 28012 Madrid, Spain, on Thursday 31st of March 2022. Attendance to this conference is free of charge, but mandatory for organisational reasons. Participants must register online at www.dravetconference.com. Upon registration, each participant will receive an electronic confirmation by email. On-site registration will not be be possible. If a participant has not received the official email registration confirmation within 3 days, they must contact the conference secretariat at research@dravetfoundation.eu.

The conference registration includes: Attendance to all sessions, oral and visual presentations, all coffee and lunch breaks, and conference documentation with all information about the event. The registration does not include travel and accommodation costs or any other personal expenses.

Admittance to the conference without registration cannot be granted.

Conference Attendance
Upon arrival at the Illustrious Official College of Physicians of Madrid the day of the event, all participants have to register at the onsite Conference Registration Desk. The desk will open on 31st of March at 8:30 a.m. Upon registration onsite, the conference team will provide participants with information about the event and a badge, which should be worn visibly at all times. The personalised badge authorises participants to attend all conference sessions, and lunch and coffee breaks. 

Cancellation Policy
Dravet Syndrome Foundation Spain reserves the right to cancel any registration forthwith and without liability on its part in the event of any damage to, or destruction of the venue by fire, shortage of labour, strikes, industrial unrest, public health measures, or any other cause beyond the control of the Dravet Syndrome Foundation Spain, which shall prevent it from performing its obligations. In these circumstances, every effort will be made to find an alternative format/venue or propose a new date for the conference. Should the conference be cancelled for any reason, airfares, hotels, or other costs incurred by the participants are not reimbursed by the Dravet Syndrome Foundation Spain.

Any participant is allowed to cancel his/her registration but must notify this to the conference organisers by e-mail at research@dravetfoundation.eu within a minimum of 10 days prior the event. Failure to attend the event without prior written notification by email may incur a no-show fee, which shall cover individual organizational, material and catering costs.

Name Change
All registrations are only valid for the respective person mentioned in the form. A registered participant unable to attend the conference may nominate (free of charge) a substitute participant by notifying the conference organisers by email at research@dravetfoundation.eu before 24th of March 2022. The procedure allows giving the last name, first name, and email address of the new participant.

Personal Data
Upon registration, the participant authorises Dravet Syndrome Foundation Spain to use their personal data stated above to inform the participant of any further conferences, events, or information concerning the conference and Dravet Syndrome Foundation Spain’s activities. The conference booklet online will only contain authors, titles, and affiliations of submitted abstracts, but no full abstract texts. The conference printed booklet will contain full abstract texts from all participants. Conference certificates will be sent to the participants as a PDF document upon request at research@dravetfoundation.eu. Only the name & affiliation will be stated in the certificate, not the email addresses of the participants.

Information is collected by an automated computer system that manages registrations. Security and confidentiality are guaranteed by state-of-the-art technical tools. However, Dravet Syndrome Foundation Spain declines any responsibility concerning data security transmitted through the internet.

Photography
The conference is held in public; therefore, we do not ban participants, exhibitors, partners and other companies from taking photographs of conference activities and participants, and share it via social media. By participating in the conference, you approve that general pictures will be taken and used for our Social Media output, our websites and other communication purposes. You hereby waive any right to oppose, and expressly authorise the organiser to make them available on the Internet or as it may seem fit. Author’s presentation slides shall not be photographed by any conference participant. 

Disclaimer
The conference organiser cannot be held responsible for any loss, injury or damage to any property, whatever the cause may be. Should, for any reason outside the organiser’s control (e.g., political or economic circumstances or a case of ‘force majeure’), the venue or speakers change, or the event be cancelled, the organiser will endeavour to reschedule, but shall not be held responsible for any costs, damages or expenses incurred by the participants. If for any reason the organiser decides to make material changes to this conference, the organiser is not responsible for airfares, hotels or other costs incurred by the participants. The participant takes part in the conference, all tours, and trips at his own risk.

Copyright
The participant is allowed to use the conference documentation exclusively for his/her personal needs.