Appointment of Glòria Garrabou, Group leader (R4-UB)
Personalised medicine is the future for numerous common diseases, and the present for many rare diseases

Current research


Recent data indicate that half of individuals with hereditary metabolic (HMD) and muscular disorders remain undiagnosed. This is due to their great clinical diversity and also to the fact that often the genetic or molecular alterations causing them are not easily detectable. Even though these days we can access the study of the whole genome, interpreting the pathological relevance of genetic alterations identified there is complex. For this reason, one of the main problems associated with these diseases is the difficulty in reaching a diagnosis of certainty, a fact which conditions access to genetic counselling and the appropriate treatment.


We combine advanced multiomic (genomic, transcriptomic, proteomic, metabolomic) techniques with studies of anatomical pathology, biochemistry and functional biology to characterise the aetiology of disorders, identify biomarkers and possible therapeutic targets. We implement specific methods to determine whether variants identified in patients are causes of the pathology and we investigate new treatments in patient-derived cell models (fibroblasts, iPSCs and 3D organoids).

Our group forms part of a team for the diagnosis and care of patients with HMD and muscular disorders. We take part in registers and also in clinical trials for these diseases


We have identified new genes and molecular mechanisms associated with different diseases. We aim to continue advancing in this line, which will allow us to know the involvement of certain biological processes in the human pathology and, at the same time, improve the diagnostic flow of this group of rare diseases.

That improve the quality of life of people affected by HMD and muscular disorders.