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LAURIE Steven
Dr Steven Laurie is a Senior Genomics Data Analyst at the Centro Nacional de Análisis Genómico (CNAG) in Barcelona, specialising in genomic data analysis and interpretation for rare diseases. Originally from Scotland, Dr. Laurie began his research career in molecular genetics before transitioning to human genetics and bioinformatics. He earned his PhD in Biomedicine from Universitat Pompeu Fabra, Barcelona in 2013, and has been affiliated with CNAG since.
In collaboration with his mentor at CNAG, Dr. Sergi Beltran, Dr. Laurie was instrumental in the development of the RD-Connect Genome-Phenome Analysis Platform (GPAP) as part of the EU RD-Connect Project. Over the past six years, he has focused primarily on the EU H2020 Solve-RD initiative, which leveraged the RD-Connect GPAP to analyze over 25,000 whole-genome and exome sequencing datasets.
Currently, Dr. Laurie is engaged in the European Rare Disease Research Alliance (ERDERA) project, which aims to provide diagnoses for thousands of undiagnosed individuals with rare diseases. The RD-Connect GPAP will continues to serve a key role in this endeavour, supporting data-driven advancements in rare disease research and diagnostics.
