Barcelona, Catalonia, Spain
Genomics leader with 25 yrs in human molecular & evolutionary genetics and 10+ in rare‑disease genomics/NGS. I specialise in translating cutting‑edge research into actionable insights and patient diagnoses. e.g. https://www.nature.com/articles/s41591-024-03420-w I have driven high-impact projects, such as the development of the RD-Connect Genome-Phenome Analysis Platform, a flagship tool within the EU rare disease (RD) infrastructure. The GPAP now has multiple instances across Spain and Europe, and has led to the diagnosis of 1000s of rare disease patients. I have built strategic pan-European collaborations in projects such as Solve-RD, RD-Connect, and ERDERA, which have improved diagnostics and patient outcomes. Currently, I am looking to leverage my expertise to drive innovation at the intersection of health, business, and AI. As an expert in disease genomics I have been presented and taught at numerous international events, sharing insights and fostering connections within the global genomics community. My ability to translate complex scientific concepts into actionable knowledge has been instrumental in advancing projects and engaging diverse stakeholders. As Product Manager and co-designer of the RD-Connect GPAP, I worked as the interface between engineers and clinical researcher end users, to deliver a SOTA tool that has empowered clinicians across Spain and Europe to diagnose thousands of rare disease patients. Facilitating the conversion of raw sequencing data into actionable insights, the GPAP has demonstrated its value in advancing personalized medicine and improving healthcare outcomes. This impactful work reflects my passion for bridging innovation and application to solve real-world problems in healthcare. My academic foundation includes a PhD in Biomedical Sciences, an MRes. in Molecular Genetics, and an MSc. in Bioinformatics. These qualifications have equipped me with the skills to integrate cutting-edge technology with biological expertise, resulting in practical solutions for complex genetic challenges. Looking forwards, I am driven by the potential of AI to revolutionize healthcare, across rare diseases, cancer, and multifactorial diseases. By facilitating adoption of advances in AI, genomics and aligned research I aim to play a role in the transformation of patient care. I welcome opportunities to connect with professionals who share the goals of applying AI and genomics to challenges in healthcare.
My professional goal is to help end the diagnostic odyssey of as many families affected by rare disease as possible, and to help improve precision-based therapy for cancer patients. Lead product manager for the RD-Connect Genome-Phenome Analysis Platform (https://platform.rd-connect.eu), an online platform which empowers clinical researchers to analyse and prioritise DNA variants from their own next generation sequencing data in order to reach a diagnosis for their rare disease and cancer patients. The platform is a key resource for the European rare disease research community and has been used in the successful analysis of over 30,000 genome-phenome dataset. A recognised expert in genomic data analysis and variant interpretation, particularly with respect to rare diseases. Has presented at numerous international meetings an workshops, including the annual European and American Human Genetics conferences, the HUGO annual meeting, and participated and taught in events such as the the Variant Effect Predictor Training Courses, and Undiagnosed Disease Network International and NBDC/DBCLS (Japanese) biohackathons. Within the EU H2020 project Solve-RD, co-ordinated the team responsible for receiving and reanalysing >22,000 exome sequencing and >3,000 genome sequencing datasets, and led the Working Group on Copy Number Variant (CNV) analysis. This project has resulted to date in hundreds of families receiving a diagnosis, thus ending their diagnostic odyssey.