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

/in ,

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.

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

/in

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

/in

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

Scientists succeed in culturing mature neurons in laboratories to study neurodegenerative diseases

/in ,

Scientists from Instituto de Bioingeniería de Cataluña (IBEC) and Universidad de Barcelona (UB) have succeeded in creating the first highly mature neurons from human induced pluripotent stem cells (iPSCs) using a synthetic material, opening up new opportunities for medical research and potential therapies for neurodegenerative diseases and traumatic injuries.

The researchers believe that by advancing the age of neurons in cell cultures, experiments can be improved to better understand late-onset diseases. “Having mature neurons in the laboratory is essential to advance the understanding of neurodegenerative diseases, such as Alzheimer’s, Parkinson’s, or amyotrophic lateral sclerosis (ALS), and in the development of effective and safe therapies”, comments one of the authors, Alberto Ortega, Ramón y Cajal researcher at the UB.

The results are published in the journal Cell Stem Cell.

SOURCE: madri+d

YOUTH WITH COURAGE in December-January

/in ,

Get to know all the stories of December-January:

  • Lethicia is 29 years old, and she suffers from Congenital Hypophosphatasia, an absence or low levels of serum alkaline phosphatase.
  • Nicolas Tricot is a researcher of the Institut national de la santé et de la recherche médicale looking for therapies for the Charcot Marie Tooth disease.
  • Bruno is 13 years old, and he suffers a disease called non-progressive congenital ataxia.
  • Roberta  is 23 years old and she suffers Ataxia, a rare disease which have many different variants. 

The initiative, co-funded by the Erasmus+ Programme of the European Union, aims at the creation of a European network of European foundations, institutions, and entities in order to promote the exchange of experiences and good practices. The partners of the initiative are:

  • Fundación Isabel Gemio (Spain)
  • Federación Española de Enfermedades Neuromusculares (Spain)
  • Parent Project APS per la Ricerca sulla Distrofa Muscolare (Italy)
  • Charcot-Marie-Tooth et Neuropathies Peripheriques (France)
  • Uniamo Federazione Italiana Malattie Rare (Italy)

Ancestors of the 2.6 billion-year-old gene-editing tool CRISPR are resurrected

/in

The prestigious scientific journal Nature Microbiology has published the results of an international research project that has managed to reconstruct, for the first time, the ancestors of the well-known CRISPR-Cas system from 2.6 billion years ago and has studied its evolution over time. The results suggest that the revitalized systems not only work, but are more versatile than current versions and could have revolutionary applications.

“This scientific achievement makes it possible to have gene editing tools with properties different, much more flexible, from the current ones which opens up new paths in the manipulation of DNA and treatment of diseases such as ALS, cancer, diabetes, or even as a tool for disease diagnosis”, explains Ylenia Jabalera, project researcher at nanoGUNE.

The project, directed by the Ikerbasque researcher from CIC nanoGUNE Rául Pérez-Jiménez, includes teams from the Consejo Superior de Investigaciones Científicas, the Universidad de AlicanteCentro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), and other state and international institutions.

SOURCE: madri+d