Ginecology, Pediatric Diseases & Experimental Surgery
Genetics Medicine
Eduardo Tizzano Ferrari
Researchers María Antolin Mate, Maria del Mar Borregan Prats, Anna Maria Cueto González, Miguel Del Campo Casanelles, Paula Fernández Álvarez, Fermina López Grondona, Laia Martínez Ribot, Carmen Mediano Vizuete, Jordi Pérez López, Alberto Plaja Rustein, Teresa Vendrell Bayona, Anna Mateo Monforte | Collaborating Elena García Arumí (Neuromuscular y McArdle- CIBERER U-701), Orland Diez Gibert (Oncogenética – VHIO)
Summary
During the year 2015, the Medicine Genetics (MG) group established collaborations with other VHIR groups to expand the spectrum of diseases under investigation such as cystic fibrosis, hypothyroidism and neuromuscular disorders with defects in mtDNA in order to improve genetic diagnosis and to gain insight into personalized therapeutic approaches. In tight collaboration with the Neuromuscular Unit, the MG group participates in a clinical trial with antisense therapy in infants with spinal muscular atrophy. Furthermore, the MG group initiated the coordination of a program of transversal research (PTR) of rare diseases (RD). The program, impulsed by the VHIR, involves numerous groups and researchers devoted to RD in our Hospital with the main objective to expand the impact of translational research in these disorders.