MSCA Researchers at Risk 2024
October 21, 2024MSCA Staff Exchanges 2024
October 21, 2024
The scientific radio program “Rare Diseases” interviewed on October 15th Dr. Juan Pié Juste, principal investigator of the Clinical Genetics and Functional Genomics Group (GIIS062) of the IIS Aragón
The program “Rare Diseases” on Radio Libertad, presented and directed by Antonio G. Armas, conducted an interview with Juan Pie Juste, Professor of Physiology at the University of Zaragoza, Academician of the Royal Academy of Medicine of Zaragoza and IP of the IIS Aragón, where they focused on the Cornelia de Lange Syndrome, neurodevelopmental disorders, their symptoms and how research has evolved in this field.
Listen to the interviewit's complete
Or access the website of Rare diseases.
Cornelia de Lange syndrome
One of the best known chromatinopathies is SCdl. It is a genetic neurodevelopmental disorder that affects multiple organs and systems. Its clinical manifestations can be very variable, with a spectrum that ranges from mild cases to severely affected ones. It is caused by mutations in genes related to the cohesin complex, a protein complex crucial for maintaining the structure of DNA and regulating gene expression. Given the high phenotypic and genotypic variability, the diagnosis of this syndrome becomes a challenge.
About Rare Diseases
Since the end of 2013, 'Rare Diseases' is a radio program presented and directed by Antonio G. Armas that is broadcast live every Tuesday from 19 to 20 pm and Saturdays from 21 to 22 pm. From January 2019, after five years of programming on Gestiona Radio, we will broadcast on FM from Radio Liberty. Its objective is to inform and raise awareness about rare diseases from a scientific point of view.These are pathologies that together affect nearly three million Spaniards, although directly affect more than 12 million, because the family nucleus also lives with them.
Source: SPRING
Cover image: Juan Pié Juste, at the Faculty of Medicine of Zaragoza. Oliver Duch
