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.