We invite you to the launch of the You’re Not Alone network for rare diseases

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Next Monday, 16 December, the Isabel Gemio Foundation will present the network ‘You’re Not Alone’ as part of the Erasmus+ project ‘Quality Youth Mentoring for Inclusion’, co-funded by the European Union. The network is made up of national and international organisations and has the following objectives:

  1. Encourage investment in rare disease research: Promote and support initiatives that boost the funding and development of scientific studies, clinical trials and research programmes that improve the knowledge, treatment and care of RD.
  2. Promote the inclusion and participation of young people with rare diseases: Implement the project ‘Quality Youth Mentoring for Inclusion’ aimed at creating mentoring programmes that facilitate the social, educational and labour inclusion of young people affected by RD, ensuring their full participation in society.
  3. Become a recognised advisor on rare diseases: To strengthen the network’s capacity to provide expert advice to national governments and European institutions on rare diseases, influencing the development of public policies and health and social care strategies.

We invite social organisations, organisations in the field of mentoring and education, researchers and scientists, as well as members of the public administration, to join us and join our network. Access is free of charge until full capacity is reached. You can register on the following link:

https://www.eventbrite.es/e/entradas-presentacion-de-la-red-youre-not-alone-1097964253639?aff=oddtdtcreator

The event will take place on

  • 16th of December
  • 12:00 to 14:00 hours
  • Colegio Internacional G. Nicoli (P.º de Eduardo Dato, 4, 28010, Madrid)

We are waiting for you!

VII Torneo de Golf Villa de San Javier (Murcia)para la investigación de enfermedades raras y distrofias musculares

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El viernes 23 y el sábado 24 de agosto de 2024, Roda Golf organiza el VII Torneo de Golf Villa de San Javier (Murcia). Se trata de un torneo solidario que destinaría los fondos a la Fundación Isabel Gemio para la investigación de enfermedades raras y distrofias musculares. Puedes inscribirte en https://www.rodagolf.com/es/

Muchas gracias a todos por participar, y a los organizadores por su eterna solidaridad!!!!

Fundación Isabel Gemio holds new multiplier events of the Erasmus+ THE VALUE OF FACING SCHOOL

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In recent days, Fundación Isabel Gemio has held new multiplier events for the initiative THE VALUE OF FACING SCHOOL, co-funded by the European Union:

  • Last Monday, February 26th, we celebrated the XVI Anniversary at the Real Casino de Madrid. During the event, attended by nearly 300 personalities from the business, culture, society, sports, and communication sectors, we presented the objectives and results of the project.
  • Two days later, on Wednesday, February 28th, the team moved to the Colegio Internacional G. Nicoli to present the benefits of the initiative and the need to improve inclusion and accessibility in the educational environment to around 50 students of the Nursing Assistant Intermediate Degree.

Discover all the news about the Project on the website and social media.

Fundación Isabel Gemio holds a new multiplier event in the Representation of the European Commission in Spain’s venue to present the Erasmus+ project THE VALUE OF FACING SCHOOL

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Madrid,  January 30th 2024. Fundación Isabel Gemio has organized a new multiplier event for the Erasmus+ project THE VALUE OF FACING SCHOOL, in Madrid. The Director of the Representation of the European Commission (EC) in Spain, Mr. Lucas Gonzalez Ojeda, welcomed the attendees and outlined the objectives set by the European Union in the field of education.

During the first part, the team from Fundación Isabel Gemio highlighted the social challenge posed by rare diseases, with over 30 million affected individuals in the European Union. María Romo, Director of Fundación Isabel Gemio, emphasized the need to collaborate and create synergies among all social actors to address and find solutions to these pathologies.

Behind the numbers and statistics, there are whole individuals and families who must overcome numerous difficulties in their daily lives. The Erasmus+ project THE VALUE OF FACING SCHOOL is born with the aim of helping these families in the school enrolment process, which sometimes becomes a race full of obstacles. The methodological guide and educational resources are already available on the project’s website. We invite you to visit the page and discover the techniques and activities designed for educational professionals, students, and family members, with the aim of improving inclusion and accessibility in classrooms.


In the second part, we had the testimonies of Begoña Martín, director of Federación ASEM, and Carolina Juzdado, a student of three university degrees and affected by Friedreich’s Ataxia. Begoña explained the challenges she had to overcome during her son Ismael’s schooling process, affected by Duchenne muscular dystrophy, and highlighted that trust and respect are fundamental values in the relationship with educational institutions. On the other hand, Carolina spoke about the physical barriers she encountered in classrooms and encouraged everyone to work towards inclusion. The event ended with a round of questions addressing new avenues for collaboration and joint work in the educational context.

We want to thank the Representation of the European Commission in Spain and Mr. Lucas Gonzalez Ojeda for their collaboration and for providing us with the space to hold the event. To Begoña Martín and Carolina Juzdado for sharing their testimonies and supporting our project. Likewise, we want to thank all the attendees for joining us and for their interest in our initiative. Thank you very much!

The Erasmus+ project THE VALUE OF FACING SCHOOL is co-funded by the European Union and has the collaboration of:

  • Federación ASEM
  • Universidade de Évora
  • French Fondation Maladies Rares
  • UNIAMO
  • Parent Project APS
  • CEIP Clara Campoamor de Málaga

We organize the first multiplier events of the Erasmus+ THE VALUE OF FACING SCHOOL

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On 29th and 30th November, we held the first multiplier events of the Erasmus+ THE VALUE OF FACING SCHOOL, co-funded by the European Union. The aim of these events is to present the results of the project, which ultimate goal is to improve the inclusion and accessibility of people affected by rare diseases and muscular dystrophies in the educational context. In addition, we had the chance to talk about the Erasmus+ funding projects, which connects professionals from different countries of Europe in order to develop and implement projects for the benefit of education, culture and youth, among other areas. 

On Wednesday 29th November, we held an online conference with the collaboration of the teacher Juanjo Izquierdo (El Desván de J) for educators, which could be followed via YouTube and ZOOM. We underlined that rare diseases affect 3.5%-5.9% of the world’s population and more than 30,000,000 people in the European Union. We also explained the different types of diagnoses and treatments available nowadays, paying special attention to the human genome research, the gene editing technique CRISPR and the orphan drugs. In the second half, we discussed the impact of digitalization in the classroom and shared inclusive methodologies to implement at school, such as project work, universal learning design and gamification. Finally, we presented the website and social networks of the project to facilitate access to the results and activities.

The following day, Thursday 30th November, it was the turn of CEIP Escuelas Bosque in Madrid. The event was part of the ‘Semana de las Distintas Capacidades’ (Week of the Different Abilities) organized by the school every year. We presented the methodological guide and the online educational resources to families and professionals from the education sector. One of the central topics of discussion was the need to create multidisciplinary teams in schools, composed by health services and other organisations, in order to enhance the quality of education for students affected by these pathologies.

In the last part, we heard the testimonial of Laura Sánchez, vice-president of Federación ASEM and affected by Congenital Arthrogryposis Multiplex, who has collaborated closely with the project. Laura explained that, in her case, the school provided her with a personal assistant. «Most of the times, the teachers and the school showed interest in my disease and supported me with everything I needed,» she said. Laura claims that digitalisation is very useful and that technological devices such as the voice coder made her educational performance much easier.

In the coming weeks, we will hold new multiplier events and dissemination activities to ensure that our goals benefit as many people as possible.

Follow us on social media if you don’t want to miss anything!

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