New online meeting of the Erasmus+ THE VALUE OF FACING SCHOOL

The partnership of the Erasmus+ THE VALUE OF FACING SCHOOL, co-funded by the European Union, held a new online meeting on April 20th to analyse and monitor the progress of the project.

This time, the partnership discussed the first part of the IO1. INCLUSION AND EQUITY IN SCHOOL (methodological guide), that will help students with rare diseases to achieve educational success. It will also analyse the impact and consequences of the Covid-19 pandemic in education, and it will underline the necessity of specialized training for professionals in contact with people affected by rare diseases.

As to the IO2. FACING MUSCULAR DYSTROPHIES AND OTHER RARE DISEASES IN SCHOOL (Open Educational Resources), the partnership agreed to create a key map of icons that will improve the accessibility of the material. This will help to connect the guide with the practical activities focus on digitalization, inclusive methodologies and health services.

The third transnational meeting of the Erasmus+ THE VALUE OF FACING SCHOOL will take place in Évora (Portugal) on October 10th. Besides, the partnership developed a dissemination plan that will give visibility to the project. “Follow us on social media and don’t miss anything”.

IIS La Fe researcher, Javier Poyatos, defends his doctoral thesis and receives outstanding distinctions

Javier Poyatos, from the Neuromuscular Pathology and Ataxias research group at the La Fe Health Research Institute, has defended his thesis, “Study of the spontaneous deletion of exons 45-55 in the DMD gene and its application as a gene therapy model. Analysis of conditioning factors of the phenotype and study of the cell model”, directed by doctors Juan Jesús Vílchez, Teresa Sevilla, Rafael Vázquez.

The court has awarded the new doctor an outstanding rating.

Javier’s research in these years has had financial support from the Isabel Gemio Foundation, among other institutions.

Congratulations, Dr. Javier Poyatos!

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

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.

Alimerka Oviedo Basketball donates €946.50 to the Isabel Gemio Foundation for research into rare diseases and muscular dystrophies 

Alimerka Oviedo Basketball has managed to raise €946.50 from sales of their special edition game shirts and help from the city. The design, carried out by Marcos García, founder of the Basiliscus & Cía collective, includes the ‘Paisanu’ and Santa María, a profile of the city’s Cathedral, or the facade of the Town Hall.

“I wanted to include the Oviedo skyline with the club’s corporate colors, blue and orange, as well as those of the sacavera, which is a recurring theme in my compositions. The idea came up of making limited edition designs for charity and I thought of the Isabel Gemio Foundation, which investigates muscular dystrophy”, explains García about the shirt.

The proceeds from the sales and also auctions of horseback riding lessons will go to our foundation for the investigation of muscular dystrophies and rare diseases.

Many thanks to Alimerka Oviedo Baloncesto and to all who have contributed!

Without you, it would not be possible.

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

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.

Fundación Isabel Gemio joins recognizing World Rare Disease Day

Fundación Isabel Gemio is going to share a series of testimonials from the initiative YOUNG PEOPLE WITH RARE DISEASES: THE COURAGE OF FACING LA VIDA, co-financed by the Erasmus+ program of the European Union for World Day for Rare Diseases, which takes place on the last day of February.

Disseminating and giving visibility to the cases of these young people offers a constant example of improvement, while making society aware of the importance of science and research for these rare diseases. So often people affected with these conditions lack a proper diagnosis or treatment that allows them to live their lives normally.

Over the next few weeks, we will learn the stories of Olivia, Leticia, Cristina, Carolina, Sara, Alicia, and Mónica. Follow us on our networks, share, and join our mission.

Juan Valderrama collaborates again with Fundación Isabel Gemio

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!

Farmaindustria proposes twelve measures to improve access to new treatments for patients with rare diseases

Improving access to new treatments for Spanish patients with rare diseases is an ever pressing issue. For this reason, Farmaindustria has launched Propuestas para la mejora del acceso de los pacientes a los medicamentos huérfanos. This new document proposes 12 specific measures to ensure that Spanish patients with rare diseases have the maximum amount of opportunities available for treatment, in line with those of other European countries. Already in 2022, the pharmaceutical industry proposed about twenty measures to improve access to new drugs.

“Patients with rare diseases cannot wait to have all the evidence to finance a medicine that already has a European authorization with a favorable benefit-risk balance,” says the director of Farmaindustria’s Access Department, Isabel Pineros. “The pharmaceutical industry is willing to take some of the risk involved in evaluating and financing orphan drugs. It is time to assume that these drugs cannot be tested as those indicated for frequent pathologies ”, she adds.

To speed up the arrival of these drugs the industry has proposed that an early dialogue be established with the Administration once the drug has received a favorable report from the EMA. It is then crucial to speed up procedures so that the evaluation and financing do not exceed three months and the therapeutic positioning reports do not exceed 60 days.

SOURCE: Farmaindustria

Second transnational meeting of the Erasmus+ THE VALUE OF FACING SCHOOL

On January 23rd, 2023, we held in Barcelona the 2nd transnational meeting of the Erasmus+ THE VALUE OF FACING SCHOOL. The partnership met to analyse the development of the intellectual outputs and to plan the following dissemination and evaluation activities of the project.

During the meeting, Fundación Isabel Gemio and Universidade de Évora presented the progress they have made with the methodological guide INCLUSION AND EQUITY IN SCHOOL. Some of the learning inclusive methodologies that this intellectual output will explain are learning through project and universal learning design and gamification. In order to offer a general overview of topics such as inclusivity and accessibility, the partnership will also portrait the legal framework for parental participation in inclusive education.

In the second half of the meeting, every entity described the Open Educational Resources they have developed. This second intellectual output of the project will include, questionnaires, books, list of recommendations, role-plays, and many other activities that will help teachers, students, and parents to enhance the environment of the classroom and to get the most out of blended learning.

All the intellectual outputs and the activities carried out by the Erasmus+ project THE VALUE OF FACING SCHOOL, co-funded by the European Union, will be available on the web platform of the project, that will be available soon. Follow us on social media and don’t miss anything.

Fourth and final transnational meeting of the Erasmus+ YOUNG PEOPLE WITH RARE DISEASES: THE VALUE OF FACING LIFE

The Erasmus+ YOUNG PEOPLE WITH RARE DISEASES held its 4th and final transnational meeting in Barcelona on January 23rd. The partnership discussed the results and analysed the all the activities carried out within the project.

The initiative YOUTH WITH COURAGE has shared a total of 28 videos with the testimonies of young people affected by rare diseases and muscular dystrophies. Fundación Isabel Gemio, as coordinator of the Project, presented the final report analysing the impact on social media. The videos got more than 10k views in total on the different social media profiles of the initiative YOUTH WITH COURAGE (Instagram, Youtube, Facebook and Twitter). Besides, all the posts related to the project amounted to more than 9k impressions.

From the evaluation questionnaire developed by the partnership to analyse the impact of the project we have drawn the following conclusions:

  • All the respondents agree that this kind of initiatives benefits people suffering from rare diseases. They also affirm that they have learnt values such as courage and empathy, the importance of research and how to overcome difficulties while watching the videos.
  • As to the question concerning inclusiveness, they point out that it is important to carried out similar initiatives to YOUTH WITH COURAGE to continue raising awareness among society. Also, they consider that it is necessary to increase the funding and training of society regarding rare diseases.

During the meeting, it was agreed to prepare a 2nd newsletter to inform organizations and institutions of the results of the second half of the project. It was also agreed to gather all the information of the project in a brief guide that will be available soon.

All the organizations involved in the project (Fundación Isabel Gemio, Federación ASEM, UNIAMO, Parent Project APS y CMT-France) would like to thank the protagonists of the initiative YOUTH WITH COURAGE for their willingness and collaboration. During these months, we have learned about their lives, their diseases, their friends and families, their biggest obstacles and their biggest dreams. Moreover, they have set an example to young people and society with their value to face life. We would also like to thank Perez Llorca law firm for welcoming us and for their amiability, and all the people that have supported us in the different stages of the project.

Ultimately, the partnership concluded that the project has been a very positive and enriching experience for all the organizations, and it committed to continue working as a team in similar initiatives. The project YOUNG PEOPLE WITH RARE DISEASES: THE VALUE OF FACING LIFE is co-funded by the Erasmus+ programme of the European Union.