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Research Groups
Group U720
Programme: Inherited Metabolic Medicine Lead Researcher: Grinberg, Daniel
Group members
STAFF MEMBERS: Cózar Morillo, Mónica | Fernández Castillo, Noelia | Urreizti Frexedas, Roser.
ASSOCIATED MEMBERS: Balcells Comas, Susana | Canals Montferrer, Isaac | Cormand Rifa, Bru | Corominas Castiñeira, Roser | Gómez Grau, Marta | Rodríguez Pascau, Laura | Serra Vinardell, Jenny | Sintas Vives, Celia | Toma Toma, Claudio | Torrico Avilés, Bárbara | Vilageliu Arques, Lluïsa.
Main lines of research
• Studyofthegeneticandmolecularbasisoflyso- somal diseases.
• Study of the genetic and molecular basis of the Costello syndrome.
• Homocysteineandpathology.
• Geneticbasisofbonepathologies.
• Geneticbasisofneurologicdiseases.
• Genetic study of hereditary multiple hereditary multiple exostoses.
• IdentificationofthegeneresponsibleforOpitzC syndromebywholeexomesequencing.
78 I Annual report 2015 I CIBERER
