Doctor in Biology, specialized in genetics, with 18 years of experience in Neuroscience research, focused on studying mechanisms of pathogenicity related to mitochondrial function in neuronal diseases. In my thesis, directed by Dr. Antonio L. Andreu Périz, I described the mechanisms of pathogenicity associated with mutations in mitochondrial DNA (2004). Later I did two postdoctoral stages. In my first postdoc with Dr. Manfredi (Weill Cornell Medical College, 2004-2008), I generated a cellular model deficient in mitochondrial ATP (Mol Biol Cell, 2010). I showed that the severity of the phenotype associated to mutations in the A6 subunit of ATPase, which cause NARP syndrome or Leigh syndrome, depends on the mitochondrial genetic background (Hum Mol. Genet., 2010). In addition, I demonstrated that lipofuscin, which accumulates with age and causes macular degeneration, is a specific inhibitor of mitochondrial energy production (J Biol Chem, 2008). With Dr. Chenjian Li, we demonstrated that mutations in the PINK1 protein, implicated in familial Parkinson's, cause deficiencies of some complexes of the OXPHOS system (PLoS ONE, 2009). In my second postdoc with Dr. Serge Przedborski at Columbia University (2009-2011), I showed that PINK1 interacts with another protein involved in familial PD, Parkin, to selectively degrade dysfunctional mitochondria (PNAS 2010; Trends in Mol Med, 2011). Since 2012 I lead the Neurobiology group at the Health Research Institute of the Balearic Islands (IdISBa) thanks to the Miguel Servet I and II programs. Currently our studies focus on understanding the role of the protein Disrupted in Schizophrenia-1 (DISC1) in the mitochondria and elucidate its role in the pathogenesis of schizophrenia. We have recently shown that mitochondrial DISC1 is part of the MICOS complex, and contributes to stabilize the OXPHOS supercomplexes (Hum Mol Genet, 2016). In addition, in collaboration with Dr. V. Paquis-Fluckinger (IRCAN, Nice), we have identified another MICOS complex protein, CHCHD10, implicated in familial ALS associated with frontotemporal dementia (EMBO Mol Med, 2015; Neurob. Disease., 2018 ).
At the teaching level, I have been Assistant Professor (2012-2013, 2015-2017) of the University of the Balearic Islands (UIB) and since September 2017 I am Associate Professor at the UIB. In addition, I have organized and taught introductory courses of research for laboratory technicians and resident doctors at Son Espases Hospital (2013-2015). I have directed two Master's Final Projects (2014 and 2015) and one doctoral thesis (2016).
At institutional level, I am the coordinator of the Neurosciences Area and member of the Internal Scientific Committee of IdISBa since its constitution (March 2014-Present) and member of the Research Commission of the Hospital Universitari Son Espases (2012-Present).