Departament de Genètica 


HUMAN MOLECULAR
GENETICS

Susana Balcells
Neus Cols
Bru Cormand
Roser Gonzàlez
Daniel Grinberg
Gemma Marfany
Lluïsa Vilageliu

HUMAN MOLECULAR GENETICS





Research in the Human Molecular Genetics group has focused in two types of genetic diseases. The first group concerns monogenic disorders associated to different degrees of genetic heterogeneity, from those of lysosomal origin to retinitis pigmentosa. Our first aim was to identify new candidate genes, disease-causing mutations and to analyse the structural and functional features of the mutant alleles. As a continuation of our work, we aim to perform functional studies at the cellular and tissular level, the construction of animal models and new strategies for diagnosis and therapy. The second group comprises complex genetic diseases. Currently, we perform association studies with markers of candidate genes and loci of several pathogenic disorders. We aim to identify the risk factors and determine the molecular bases of the pathology.