2023.03.26

+ Bio | I earned a PhD by the University of Tübingen (Germany) in 2009 (Director: Dr. T. Gasser). This lab first identified mutations in the LRRK2 gene as the main monogenic cause of Parkinsons disease (PD); there I learned the genetic basis of neurodegenerative diseases. Later, I joined the lab of Dr. E. Tolosa & MJ. Martí at IDIBAPS-Hospital Clínic de Barcelona. Since 2020 I am a Miguel Servet (ISCIII) tenure PI and my research focus is Translational Neurogenomics in Parkinsons disease, specially LRRK2 PD where LRRK2 mutations are associated with a hyper kinase function. As geneticist, I apply multi-disciplinary OMICS including epi-/genomics, transcriptomics, phospho-proteomics, and bioinformatics to tackle the molecular mechanisms of PD and identify disease progression biomarkers, mainly at PD prodromal stages before motor onset. My research goal is ?To stop PD before it starts. 

+ Research | We first showed epigenomic defects in iPSC-derived dopaminergic neurons from LRRK2 PD (PMID: 26516212). We search for peripheral biomarkers under the hypothesis that subjects at PD prodromal stages present the earliest molecular changes before motor onset. We reported a blood phospho-protein signature discriminating manifesting and non-manifesting LRRK2 carriers (PMID: 35049090); PD progression candidate biomarkers in premotor cohorts, i.e., LRRK2 non-manifesting carriers (PMID: 35929078; PMID: 36732514) or RBD (PMID: 35962561; PMID: 25675938); and LRRK2 penetrance modulators (PMID: 29473656). I led these articles reporting PD mechanisms, early PD progression biomarkers, or LRRK2 pharmaco-dynamic readouts for clinical trials.

+ Leadership | 55 publications (WOS h-index=23): 27 as main author (16 corresponding / 13 last / 14 first) of which 19 are in D1 journals (70%). I raised  1,8 millions as PI, i.e., 841k (47%) in 4 international grants by the Michael J Fox Foundation for Parkinsons research (MJFF); 372k (21%) national from MINECO-AEI and ISCIII; and 573k (32%) HHRR. I coordinate 1 multi-centre study of 5 centres in Spain (MJFF-000858). I recruited 5 team members: 1 post-doc (AGAUR Beatriu-de-Pinòs), 2 pre-docs (ISCIII PFIS and MJFF), and 2 technicians (EC ?Investigo and ISCIII FIS). I was auto-funded since 2009 by Miguel Servet (ISCIII), Jóvenes Investigadores (AEI), Juan-de-la-Cierva (MINECO), and Marie Sk?odowska-Curie (EC). I invented 1 patent, a genetic method for predicting dyskinesias. 

+ Internationality | I collaborate with the USA (Dr. S. Padmanabhan, MJFF, New York; Dr. A. Singleton, NIH Aging, Bethesda), UK (Dr. H. Morris, UCL Queen Square, London), Germany (Dr. T. Gasser, HIH; Dr. M. Sharma, Uni Tübingen), France (Dr. R. Melki, CNRS Paris), or Australia (Dr. N. Dzamko, Uni Sydney). In 2023 I am visiting scientist at the MRC-PPU / University of Dundee (Scotland) hosted by Dr. D. Alessi, a worldwide lead of LRRK2 kinase cell signalling. This is a unique opportunity for expanding my international collaboration on LRRK2. I am active member of the Global Parkinsons Research Program (GP2), the Parkinsons Progression Markers Initiative (PPMI), the MJFF LRRK2 Cohort Consortium (L2CC), and the International Parkinsons Disease Genomics Consortium (IPDGC). 

+ Society | I pursue outreach by: (i) Press releases, e.g., La Vanguardia, (ii) Social networks, e.g., Twitter (HCPB PD group), (iii) patients informative talks, e.g., Associació Catalana per al Parkinson, (iv) inclusive actions, e.g., IDIBAPS-Clínic Open Day, and (v) educative actions like RecerConnecta, or Day of Women & Girls in Science. Committed to Open Access (OA), my articles are green-OA at the University of Barcelona Deposit (DDUB/CRAI), being 70% in the last 10 years gold-OA. Based on FAIR, all our OMIC data are public, e.g. PMID: 35049090. In industry, we facilitate patients access to trials (foxtrialfinder) (link), and participate at the Denali/Biogen LRRK2 kinase inhibitor trialsLuma (Ph-IIb) and Lighthouse (-III). We collaborate with Lilly to test new LRRK2 inhibitors. 

+ Mentoring | As an Assoc. Prof. by AQU, I am part of advisory boards and thesis committees of the MSc Programme in Neuroscience and the PhD Programmes in Biomedicine and Medicine at the University of Barcelona. I mentor 1 post-doc and 4 pre-docs: 1 thesis completed on 23/02/2023 (Dr. M. Soto, biologist) (summa cum laude), 3 ongoing (A. Garrido, neurologist; A. Roig and P. Bravo, biochemists), the former in collaboration with the Icahn School of Medicine (New York). I supervised 6 MSc theses, 6 BSc theses, and 6 practicums. Committed to equity, diversity and inclusion, I recruit and promote mentees based on scientific capacities regardless of personal characteristics, preferences, or beliefs. 

+ Peer-reviewer | I have 30 ad-hoc reviews (60% D1; 26% Q1) in top journals, e.g., Brain, EMBO, or CTM. I am a commissioned project evaluator at the Agencia Estatal de Investigación (AEI) and ad-hoc evaluator for the Wellcome Trust.

I earned a degree in Biology from the University of Oviedo (Spain) in 2003 and a PhD in Neuroscience from the University of Tübingen (Germany) in 2009. During my thesis at the lab of Prof. Thomas Gasser, I investigated the genetics of amyotrophic lateral sclerosis (ALS). As a post-doc, I joined the lab of Prof. Eduardo Tolosa / Prof. María-José Martí at the IDIBAPS-Hospital Clínic de Barcelona (Spain) in 2009. Since then, I investigate genetics and epigenetics of Parkinsons disease (PD), with focus on prodromal stages of PD. Using iPSCderived dopaminergic neurons (DAn) from PD patients, I was first reporting that epigenetic deregulation occurs in sporadic and in familial LRRK2-associed PD. During my 2 post-docs, I was awarded a Marie Sk?odowska-Curie grant from the European Commission, a Juan-de-la-Cierva grant from the Spanish Ministry of Economy and Competitiveness (MINECO), and three research grants from the Michael J. Fox Foundation for Parkinsons Research (MJFF) as principal investigator (PI). Between 2011 and 2013 I was project coordinator of the ?LRRK2 Cohort Consortium initiative from the MJFF at the Barcelona site. In 2015, the patient-supported Federación Española de Parkinson recognized my microRNA work as publication of the year for the identification of pheno-conversion biomarkers in PD prodromes years before motor manifestation. In 2016, I was awarded a Jóvenes Investigadores (JIN) grant from the Spanish Agencia Estatal de Investigación (AEI) supporting the set-up of my own research lines as junior PI. Since 2019 I hold a Miguel Servet tenure position from the Instituto de Salud Carlos III (ISCIII) as an independent PI. In 2021, I was awarded a FIS grant from the ISCIII to investigate the epigenome of PD, and a MJFF grant as coordinating PI of a multi-centric study characterizing the phospho-proteome of PD patients with LRRK2 mutations. Globally, as an independent PI I have raised a total of  1.80 mio funds (7 research projects + 3 HHRR hired personnel). In 2022 I have recruited 1 senior post-doc, Dr. Lorena de-Mena Álvarez, a molecular biologist from the University of Florida (USA) through a 3-year Beatriu-de-Pinós post-doctoral contract (AGAUR). I have also recruited 1 pre-doc, Ana Roig-García, biochemist MSc in Neuroscience by the University of Heidelberg (Germany), with a 4-year PFIS pre-doc contract (ISCIII). Lastly, I hired 1 lab technician, Alejandro Rubiano Castro, through one 2-year Investigo contract from AGAUR/ European Commission. Also, I have directed 1 PhD thesis (Dr. Marta Soto, defense 23/02/2023, summa cum laude). Currently, I am directing 3 other PhD theses. I supervised 6 MSc theses, 6 BSc theses, and 6 practicums.