Fundación Isabel Gemio commemorates World Rare Disease Day together with young people affected and their families

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On the occasion of World Rare Disease Day, the Isabel Gemio Foundation has organized a round table with young people affected by rare diseases and their families at Banco Santander’s Work Café in Madrid. Isabel Gemio herself has been in charge of giving voice to the testimonies of Jessica, Juan and Olivia. Cristina, Juan’s mother, has told her son “Juan, you are not rare / weird… you are extraordinary!”

During the event, which was also streamed, we also learned the stories of Abraham and Anabel, who use social networks and online platforms as tools to publicize their illness and their daily routine. Abraham has said that “we should not pay attention to rare diseases only today, but every day of the year.”

We have learned about the latest scientific advances from Dr. Lluis Montoliu and Isabel Gemio has highlighted the importance of research for those affected by rare diseases and for the whole of society.

Isabel took advantage of the event to also talk about the Erasmus+ project coordinated by the Foundation, YOUNG PEOPLE WITH RARE DISEASES: THE VALUE OF FACING LIFE. More than a thousand people, including young people affected by rare diseases, families, volunteers and youth technicians, have benefited directly and indirectly from this initiative that seeks to give visibility to these types of pathologies and raise awareness among society about the importance of science and research. The success of the project will allow the Isabel Gemio Foundation to continue working on other European projects and on new initiatives that take advantage of partnerships achieved across Europe.

Fundación Isabel Gemio attends the conference “Investigar es avanzar” organised by the CIBERER

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The Fundación Isabel Gemio’s team attended the 12th edition of the CIBERER Conference “Research is Progress”, held on 28 February on the occasion of World Rare Disease Day.

During the event, we heard the testimony of Gabriela, the only person in Spain affected by Huppke-Brendel syndrome, an ultra-rare disease of genetic origin caused by low levels of copper and which produces a severe delay in psychomotor development.

In relation to her case, several researchers explained the advances that have been made using animal models, highlighting the case of the zebrafish, a magnificent model in the search for diagnosis and therapies for rare diseases.

Juan Valderrama collaborates again with Fundación Isabel Gemio

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On March 28, Juan Valderrama will recite the Diván del Tamarit poems at the Teatro Real in Madrid, coinciding with the 125th anniversary of the recital of poet Federico García Lorca. Valderrama also brings the great singer-songwriter from Granada, Carlos Cano, who puts music to poetic works in a masterful way, contributing his personality and experience in mixing musical traditions with new trends of the 21st century.

This unique and unreplicable concert will also host artists such as Ana Belén, Carmen Linares, Miguel Poveda, Diana Navarro, and Antonio Reyes.

Part of the proceeds will go to financing the research lines of the Fundación Isabel Gemio that seeks solutions to rare diseases and other muscular dystrophies.

Get your tickets at the following link.

Enjoy an unforgettable night and join a good cause!

Fundación Isabel Gemio recognized as social entity invite to Casa Decor 2023

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The 2023 Casa Decor will open its doors to the Fundación Isabel Gemio as the guest social invite. During the exhibition (April 13 to May 28) different events will be organized in the common rooms of Serrano 92 to support and give visibility to the great work done by this non-profit organization: promoting and financing scientific research into muscular dystrophies and other rare diseases, in addition to promoting the exchange of information between experts, patients, and their families, and supporting the development of pharmacology.

What is a rare disease?

According to the definition of the European Union, rare diseases, including those of genetic origin, are those with a risk of death or chronic disability, which have a low frequency or prevalence (less than 5 cases per 10,000 inhabitants). In Spain, there are more than three million people affected by lesser-known diseases and anyone can be at risk of developing them.

Isabel Gemio, Isabel Gemio, president of the Foundation, with Dr. Vilchez’s research team at Hospital La Fe in
Valencia.

The research goals of the Fundación Isabel Gemio are directed by prestigiously recognized professionals within CIBERER, the Central Network for Biomedical Research on Rare Diseases, and with the support of its scientific committee and the active collaboration of the CSIC. Photo: Lucas Vasques on Unsplash.

En 2016, In 2016, Dr. Margarita Salas and Isabel Gemio signed a collaboration agreement between the Severo Ochoa Foundation and the Isabel Gemio Foundation at the headquarters of the Severo Ochoa Molecular Biology Center to promote scientific research in hereditary metabolic diseases in their capacity as presidents of both Foundations. With this agreement, a new line of research opened in the projects financed by the Isabel Gemio oundation. One notable project birthed from this agreement has been «Bases moleculares de enfermedades neurometabólicas y desarrollo de terapias específicas de mutación», carried out by Dr. Belén Pérez González, as principal investigator, at the Severo Ochoa Molecular Biology Center (CBMSO) and the Disease Diagnostic Center Molecular (CEDEM).

Research and knowledge

The Isabel Gemio Foundation was created in 2008 with the aim of financing and promoting scientific research projects studying rare diseases, as well as training researchers and medical professionals to offer accurate diagnoses. In addition, it proposes integrating tools that increase the efficiency of treatments. Among them, the creation of new laboratories, or the improvement or adaptation of existing ones, is a crucial aim (e.g. the development and maintenance of biobanks (banks for storing human biological samples for research) and the cataloging of diseases).

For the Foundation, it is very important to disseminate both research work and information of interest to affected patients and their families, the search for collaborations with other similar organizations, and, of course, care for those affected and their families.

Currently, thanks to the help of many people, the Isabel Gemio Foundation has 7 active lines of scientific research. These include “Autophagic/lysosomal dysfunction in neuromuscular diseases”, “Therapeutic approaches in muscular dystrophies through cell and animal models”, “Biology, physiopathology and therapy of skeletal muscle satellite cells”, “Development of clinical, genomic and bioinformatics applications to address rare diseases”, among others.

The direct and indirect benefits of the projects financed by the Isabel Gemio Foundation, given their wide spectrum of research, seek to achieve real clinical improvements with the treatments that affected people and their families can benefit from.

The people who matter: those affected and their families

Families and patients suffering from a rare disease live in a very different, distinct reality. The emotional impact of these conditions is very high, as the effects of these diseases usually cause immense disability and an extreme level of dependence on family members and / or caregivers. The economic impact that these diseases have in different areas is also enormous. These patients consume large amounts of health resources, since they need care by multidisciplinary teams in all phases of the disease. In advanced stages, the consumption of orthopedic material, wheelchairs, home assisted ventilation devices when necessary, or other products is very high.

This is the reality of their lives. The Isabel Gemio Foundation aims to raise awareness in society about these situations and seeks funding for research projects that are the only solution to change their lives and those of their families.

Any of us can suffer from a rare disease during our lives. This reality should occupy our minds and concern us for solidarity and justice.

On its tenth anniversary, the Isabel Gemio Foundation held a large charity party to raise funds for research into rare diseases. Under the motto “Estrellas por la Ciencia”, a grand gala was held in which the audience was able to enjoy performances by artists such as the Víctor Ullate ballet, Antonio Carmona, Cristina Toledo, María Toledo, Pasión Vega, and Miguel Poveda. A cocktail-dinner was then served coordinated by Mario Sandoval, Paco Roncero, Pepa Muñoz, Iván Muñoz, Óscar Velasco and José Carlos Fuentes, all with Michelin stars, who wanted to contribute to this cause by offering their best tapas.

Events

Since its founding fifteen years ago, the Isabel Gemio Foundation has held numerous charity events in order to raise funds for scientific research. In all of them, they have had the support in hundreds of events with friends and professionals who have decided to join this great project: to end neuromuscular diseases and other rare diseases.

For more information:
www.fundacionisabelgemio.com
info@fundacionisabelgemio.com
Tel.: +34 911 103 158

Conference to analyze the ‘Hoja de Ruta para las Enfermedades Raras’ document and initiative

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The Isabel Gemio Foundation has attended and collaborated in the conference held this morning to analyze the main points of interest of the document ‘Hoja de Ruta para las Enfermedades Raras’.

Published in 2021, the ‘Roadmap for Rare Diseases’ is a consensus document that identifies the main challenges of rare diseases and offers concrete solutions to improve the quality of life of patients.

PRESS: Feder / La Vanguardia

Gran éxito de la IV Marcha Solidaria Pepa LLobet en la Vall d’Uxó por la investigación en enfermedades raras

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2341, 36 € destinados a la investigación. Mil gracias a todos, a la Comisión de Fiestas Patronales de Sant Vicent Ferrer, a los organizadores, a las empresas colaboradoras, a los participantes, a todos, muchas gracias de corazón, por ser tan excepcionales. Lo pasamos muy bien con vosotros además de lograr una gran recaudación para la investigación. Ya la cuarta edición!!! vamos a por la quinta!!!.

 

 

 

NoticiasdeAlava.eus: ‘Persiguiendo el límite’: 400 kilómetros por los Monegros en silla de ruedas

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‘Persiguiendo el límite’: 400 kilómetros por los Monegros en silla de ruedas

UN DOCUMENTAL, QUE SERÁ PRESENTADO LA SEMANA QUE VIENE EN VITORIA, REVISITA LA TRAVESÍA SOLIDARIA DE LA ASOCIACIÓN CAMINUS

CARLOS MTZ. ORDUNA 17.03.2022 | 17:05

Rubén Zulueta, José Ignacio Fernández y Antonio González, miembros de CaMinus.

Rubén Zulueta, José Ignacio Fernández y Antonio González, miembros de CaMinus. Cedida

Rubén Zulueta y José Ignacio Fernández, que padecen distrofia muscular, integran junto a Antonio González la asociación vitoriana CaMinus, volcada en sensibilizar a la sociedad sobre la discapacidad y la necesidad de construir un espacio y unos servicios públicos sin barreras.

Hace ya siete meses, en agosto del pasado 2021, Zulueta y Fernández se embarcaron en su segundo gran proyecto solidario: una travesía de 400 kilómetros a través del desierto de los Monegros, repartida en diez etapas, sobre sus sillas de ruedas eléctricas, donde volvieron a contar con el soporte y la compañía de González.

Como ya hicieran con su primera aventura, completar el Camino de Santiago también sobre ruedas, fue de nuevo una forma de dar visibilidad a las enfermedades minoritarias y colaborar con la investigación.

MÁS VISIBLE TODAVÍA

En esta ocasión, el escaparate va a ser visible para muchas más personas gracias a un documental, Persiguiendo el límite, que revisita esta travesía gracias al trabajo –también solidario– de la firma de creación audiovisual local Pecas Solidarias y su directora, Esther Díaz, que acompañaron a CaMinus durante su recorrido.

El documental, en el que participan rostros tan conocidos como los de Isabel Gemio, Julian Iantzi o El Langui, será presentado el próximo jueves 24 (20.00 horas) en los cines Florida de la capital alavesa.

Quien no pueda esperar hasta esta fecha, ya puede disfrutar del tráiler del documental bajo estas mismas líneas.

Venta benefica de vestidos de “Las chicas de la Tele” donados para la investigación

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¿Te gustaría comprar alguna de las prendas ?

Hoy se ha inaugurado el Pop Up solidario “Las chicas de la Tele”. Desde el 8 al 13 de marzo, el espacio Soho Club de Madrid en la Plaza de España número 6.

Vestido de Hannibal Laguna donado por Isabel Gemio

reunirá una exposición y venta de vestidos y complementos donados, altruista y solidariamente, por reconocidas presentadoras y periodistas televisivas con el fin de recaudar fondos para las líneas de investigación de la Fundación Isabel Gemio.

El Pop Up Solidario ” Las chicas de la tele” pretende, además, dar visibilidad a las enfermedades menos frecuentes y a la realidad de los afectados por estas crueles patologías y sus familias, concienciando a los ciudadanos de la importancia de la investigación en este campo, además de potenciar la oferta de ocio de la ciudad de Madrid.

La exposición y venta recoge donaciones de Paula Echevarria, Ana Rosa Quintana, Nieves Herrero, Terelu Campos, Isabel Gemio, Lara Alvarez, Mercedes Milá, Mariló Montero, Elena Sánchez,Sónsoles Onega, Raquel Sánchez Silva  y Cristina Tárrega.

Los precios de esta venta solidaria van desde 20 hasta 125 euros.

Los vestidos de firma son un verdadero regalo. Si os interesa adquirir alguno es una buena oportunidad y un acto solidario de contribución a la investigación!!!. Mil gracias a todos!!!.

Cena solidaria jueves 10 de marzo de Pepa Muñoz con regalo del libro de Isabel “Mi hijo, mi maestro” en el Soho Club

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Cena de Gala Benefica a favor de la Fundación Isabel Gemio

FECHA
10 de marzo de 2022
PRECIO
Web 99,00€

Taquilla 99,00€

Compra de entradas en el siguiente enlace: ENTRADAS

CENA DE GALA BENEFICA A FAVOR DE LA FUNDACIÓN ISABEL GEMIO

La Fundación Isabel Gemio centra todos sus esfuerzos en financiar proyectos de investigación científica que buscan el tratamiento o cura para las enfermedades minoritarias, conocidas como “raras”, apoyando la investigación biomédica básica, clínica y traslacional de aquellos grupos que son líderes en Investigación en nuestro país, financiando íntegra o parcialmente proyectos que forman parte de la Red CIBER.

Para contribuir a su causa, vamos a realizar una cena de gala en nuestro restaurante para que podáis conocer más acerca de la fundación y ayudar en la medida de lo posible a que su labor continúe.

 

El menú de la cena, creado por Pepa Muñoz (El Qüenco de Pepa) y Miguel García, será el siguiente:

Surtido de Ibéricos de Remedios Sánchez

Los tomates de Pepa

Flor de Alcachofa by Miguel García

Brioche de stick tartar de rubia gallega

Salmonete transparente con cítricos

Rodaballo salvaje con verduras de la huerta de Pepa

Tarta cremosa de queso

Vino blanco verdejo rueda

Tinto Ribera del Duero

Precio: 90€ + IVA = 99 €

Con regalo del Libro de Isabel Gemio “Mi Hijo, mi Maestro”.

28 de febrero Día Mundial de las Enfermedades Raras La Fundación Isabel Gemio lanza un programa europeo cofinanciado ERASMUS+ para la juventud y la sensibilización

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Madrid, 28 de febrero de 2022.- La Fundación Isabel Gemio presenta, con ocasión del día mundial de las enfermedades raras, el lanzamiento del proyecto europeo JÓVENES CON ENFERMEDADES RARAS: EL VALOR DE ENFRENTARSE A LA VIDA (YOUNG PEOPLE WITH RARE DISEASES: THE VALUE OF FACING LIFE) cofinanciado por el programa ERASMUS+ de la Unión Europea que coordinará en los próximos meses y en el que participan los siguientes socios europeos:
UNIAMO FEDERAZIONE ITALIANA MALATTIE RARE (Italia)
PARENT PROJECT PER LA RICERCA SULLA DISTROFIA MUSCOLARE – ASSOCIAZIONE DI PROMOZIONE SOCIALE (Italia)
ASSOCIATION CHARCOT-MARIE-TOOTH ET NEUROPATHIES PERIPHERIQUES (Francia)
FEDERACIÓN ESPAÑOLA DE ENFERMEDADES NEUROMUSCULARES (ASEM) (España)

El proyecto comienza con la publicación del primer video de concienciación sobre las enfermedades raras a los jóvenes europeos en el canal de Instagram IGTV YOUTH WITH COURAGE.
https://www.instagram.com/youthwithcourage/.

En este primer video la protagonista es Carolina Juzdado, joven afectada por la Ataxia de Friedreich y que nos cuenta su día a día expresando su confianza en la investigación y en la ciencia que es la única solución para todos. Puedes ver el video en el siguiente enlace: https://www.instagram.com/p/CaZj6Aqg299/

El proyecto supone la creación de una red europea de fundaciones, instituciones y entidades europeas que intercambian experiencias y buenas prácticas, pero que también colaboran conjuntamente para crear y publicar pequeñas entrevistas a jóvenes con enfermedades raras que cuentan su día a día y enseñan a los usuarios cómo superar sus barreras. También se incluirán pequeños videos de científicos, familias que contribuyen de manera efectiva a este ámbito o personas importantes para avanzar en la investigación de las enfermedades raras

Las acciones que desarrollará el proyecto supondrán el acercamiento y trabajo conjunto entre entidades de diferentes Estados europeos, que comparten sus ideas y difunden sus acciones entre el resto de la red para aportarles más capacidad de impacto.

Con este proyecto conseguiremos un conjunto de recursos audiovisuales que muestren la vida de jóvenes excepcionales que superan día a día las barreras impuestas por sus raras enfermedades, no solo reconociendo su valía, sino sirviendo de ejemplo de superación a otros jóvenes que padecen enfermedades raras. Este será un resultado dinámico pues los jóvenes que padecen enfermedades raras, podrán crear sus propios videos convirtiéndose en parte de IGTV: YOUTH WITH COURAGE. Y el resto de los jóvenes y sociedad civil podrá comprender mejor la realidad de las personas afectadas por enfermedades raras, las personas sin diagnóstico y sus familias.

Sobre la Fundación Isabel Gemio

La Fundación Isabel Gemio tiene como objetivo contribuir a acelerar la investigación de las enfermedades raras, en aquellos aspectos biológicos, fisiopatológicos, genéticos o terapéuticos que puedan incidir en el desarrollo y aplicación de tratamientos, además de fomentar la sensibilización y concienciación de la sociedad sobre la realidad de estas crueles patologías e intentar fomentar la mejora de la calidad de vida de las personas afectadas por estas enfermedades minoritarias y sus familias.

La Fundación Isabel Gemio lleva catorce años recaudando fondos para la investigación de las enfermedades menos frecuentes, apoyando y financiando importantes proyectos de investigación científica en estas enfermedades.

Desde el año 2008 disponer de fondos de la Fundación ha permitido a los grupos de investigación, además de desarrollar sus proyectos, avanzar en sus conocimientos, colaborar en ensayos clínicos y estudios y haber sido seleccionados para participar en la mayoría de los ensayos de terapia génica y otras moléculas de vanguardia y publicar conclusiones de sus proyectos en numerosos artículos en revistas científicas de reconocido prestigio que pueden consultar en la web www.fundacionisabelgemio.com.

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February 28 World Rare Disease Day The Isabel Gemio Foundation launches an ERASMUS+ co-financed European program for youth and awareness

Madrid, February 28, 2022.– The Isabel Gemio Foundation presents, on the occasion of World Rare Disease Day, the launch of the European project YOUNG PEOPLE WITH RARE DISEASES: THE VALUE OF FACING LIFE) co-financed by the ERASMUS+ program of the European Union that it will coordinate in the coming months and in which the following European partners participate:

UNIAMO FEDERAZIONE ITALIANA MALATTIE RARE (Italy)

PARENT PROJECT PER LA RICERCA SULLA DYSTROPIA MUSCOLARE – ASSOCIAZIONE DI PROMOZIONE SOCIALE (Italy) ASSOCIATION CHARCOT-MARIE-TOOTH ET NEUROPATHIES PERIPHERIQUES (France)

SPANISH FEDERATION OF NEUROMUSCULAR DISEASES (ASEM) (Spain)

The project begins with the publication of the first rare disease awareness video for young Europeans on the IGTV YOUTH WITH COURAGE Instagram channel. https://www.instagram.com/youthwithcourage/. In this first video, the protagonist is Carolina Juzdado, a young woman affected by Friedreich’s Ataxia who tells us about her day-to-day life, expressing her confidence in research and science, which is the only solution for everyone. You can watch the video and follow the channel at https://www.instagram.com/p/CaZj6Aqg299/

 

The project involves the creation of a European network of European foundations, institutions and entities that exchange experiences and good practices, but also collaborate together to create and publish short interviews with young people with rare diseases who tell their day-to-day lives and teach users How to overcome your barriers. Short videos of scientists, families who contribute effectively to this field or important people to advance research on rare diseases will also be included.

The actions that the project will involve the rapprochement and joint work between entities from different European States, which share their ideas and spread their actions among the rest of the network to provide them with greater impact capacity. With this project we will achieve a set of audiovisual resources that show the lives of exceptional young people who overcome the barriers imposed by their rare diseases every day, not only recognizing their worth, but also serving as an example of overcoming other young people who suffer from rare diseases.

This will be a dynamic result as young people with rare diseases will be able to create their own videos by becoming part of IGTV: YOUTH WITH COURAGE. And the rest of the young people and civil society will be able to better understand the reality of people affected by rare diseases, people without diagnosis and their families.

Isabel Gemio Foundation

The Isabel Gemio Foundation aims to contribute to accelerating research into rare diseases, in those biological, pathophysiological, genetic or therapeutic aspects that may affect the development and application of treatments, in addition to promoting awareness and awareness in society about the reality of these cruel pathologies and try to promote the improvement of the quality of life of the people affected by these rare diseases and their families. The Isabel Gemio Foundation has spent fourteen years raising funds for research on less frequent diseases, supporting and financing important scientific research projects on these diseases. Since 2008, having funds from the Foundation has allowed research groups, in addition to developing their projects, advancing their knowledge, collaborating in clinical trials and studies, and having been selected to participate in most gene therapy trials. and other cutting-edge molecules and publish the conclusions of their projects in numerous articles in prestigious scientific journals that can be consulted on the website www.fundacionisabelgemio.com.