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Programa de Secuenciación Completa del Genoma

Gracias al Programa de Secuenciación Completa del Genoma, la Fundación Síndrome de Dravet ofrece un test genómico a pacientes residentes en España no diagnosticados de cualquier edad que presenten un cuadro clínico compatible con síndrome de Dravet.

Este programa solo es accesible a los pacientes que estén atendidos por médicos y especialistas de los centros y hospitales públicos del Sistema Nacional de Salud español.

La secuenciación completa del genoma podría ser clave para la obtención del diagnóstico final del paciente. Un diagnóstico correcto evitará pruebas innecesarias y facilitará el tratamiento adecuado del paciente, lo cual supondrá una mejora de valor incalculable de su calidad de vida y la de toda la familia. Cuanto antes se consiga el diagnóstico, antes podrá aplicarse el tratamiento adecuado, lo cual podría alterar de manera positiva el rumbo de la enfermedad.

Programa WGS

Metodología

El test, realizado en colaboración con una empresa experta en tests avanzados del ADN, consiste en la secuenciación completa del genoma. Se enviarán los resultados obtenidos por correo electrónico al médico responsable en un plazo aproximado de 1-2 meses tras recibir en el laboratorio la muestra de ADN.
Bajo este programa, las muestras serán analizadas de manera totalmente gratuita. Aceptamos muestras procedentes de cualquier paciente con residencia en España, siempre y cuando reúnan los requisitos para el estudio (ver abajo).


Para poder participar en este estudio, la solicitud de test genético debe ser emitida por un médico para un paciente con sospecha de síndrome de Dravet y contener todos los documentos y muestras necesarias.

Criterios de sospecha de síndrome de Dravet requeridos para el estudio

Los pacientes, de cualquier edad, que tengan un cuadro clínico cercano al síndrome de Dravet serán admitidos en este estudio. Consideramos que el cuadro clínico es cercano al síndrome de Dravet cuando el paciente reúne un mínimo de dos de los siguientes criterios:

  •  2 convulsiones antes de los 6 meses de edad.
  •  Presencia de crisis parciales, hemiclonías o mioclonías en el primer año de vida.
  • Convulsiones asociadas a las vacunas, baños calientes o calor ambiental en el primer año de vida.
  •  Convulsiones febriles persistiendo en edad mayor de 5 años.
  • Convulsiones febriles frecuentes, severas, o de duración prolongada en el primer año de vida.

Documentos y muestras necesarios

Una vez aprobada la solicitud, la Fundación Síndrome de Dravet le facilitará al médico solicitante el acceso a la plataforma online en la que deberá aportar:

1. Consentimiento Informado: firmado por el paciente o representante legal y por el médico. Ciertos datos de contacto deben ser también rellenados por el médico donde se indique en dicho consentimiento informado. 
2. Cuestionario HPO de datos clínicos del paciente y Cuestionario de datos farmacológicos, acompañados, si es posible, de una copia del informe clínico actualizado del paciente.

La falta de algún documento implicará que el paciente no será admitido a estudio.

Una vez recibidos los documentos debidamente cumplimentados, la Fundación Síndrome de Dravet enviará al médico, de manera gratuita, el kit para la extracción de la muestra del paciente (muestra de saliva, a extraer siguiendo las instrucciones indicadas en el kit), así como las etiquetas de transporte para enviar el kit al laboratorio a través de una empresa de mensajería. Desde el hospital o centro de salud se deberá concertar con la empresa de mensajería la recogida del paquete para su envío al laboratorio.

Cómo es posible que ofrezcamos el test genómico gratuito

Lanzamos este programa gracias al apoyo de nuestros donantes particulares y corporativos. Si ayudamos a diagnosticar a su hijo o familiar o simplemente si quiere apoyarnos en esta labor, considere realizar una donación a la Fundación Síndrome de Dravet para que el test gratuito siga existiendo. La información sobre cómo donar a la Fundación se encuentra en nuestra web.

Somos conscientes de que la secuenciación del genoma completo tiene una utilidad diagnóstica y de investigación en más patologías que solo aquellas cercanas al síndrome de Dravet, contempladas en el programa actual. Si pertenece a una organización de pacientes con otro síndrome de epilepsia genética y desea obtener más información sobre la manera de ofrecer este test a sus pacientes, contacte con nosotros en wgs@dravetfoundation.eu.

Conviértase en un patrocinador corporativo

Como organización de pacientes, confiamos en la generosidad de los patrocinadores corporativos para que nos ayuden a llevar a cabo nuestras actividades fundacionales.

Contáctenos en fundraising@dravetfoundation.eu para convertirse en patrocinador de este programa.

Cómo participar en este programa

Como doctor de un hospital o centro de salud público español a cargo de un paciente residente en España con sospecha de tener síndrome de Dravet, puede solicitar la participación en este programa, siempre y cuando el paciente reúna un mínimo de dos de los criterios del anterior punto.

Para formalizar la solicitud, deberá aportar una serie de datos básicos, tanto del propio doctor como del paciente, en ESTA PÁGINA.

Patrocinadores de este programa

¡Haz tu donación!

Tu aportación se destinará a ayudar a nuestros guerreros y sus familias en su lucha contra el síndrome de Dravet, para conseguir que no pierdan nunca la sonrisa.

Esperanza

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

The conference registration includes: Attendance to all sessions, oral sessions and visual presentations. The conference registration includes all coffee breaks, lunch breaks, and conference documentation with all information about the event. The registration does not include travel or 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 1st of April at 8:30 a.m. Upon registration at the registration desk, 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, lunch and coffee breaks.

 

Cancellation Conditions

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, 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 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.

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’s activities. The conference booklet online and in print will only contain authors, titles, and affiliations of submitted abstracts, but no full abstract texts. 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.

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

The conference registration includes: Attendance to all sessions, oral sessions and visual presentations. The conference registration includes all coffee breaks, lunch breaks, and conference documentation with all information about the event. The registration does not include travel or 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 at the registration desk, 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, lunch and coffee breaks. 

Cancellation Conditions
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, 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 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.

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’s activities. The conference booklet online and in print will only contain authors, titles, and affiliations of submitted abstracts, but no full abstract texts. 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.

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.