Dr | Research Officer
Dr Cristina Fortuno holds a Master of Science in Biotechnology from the Polytechnic University of Valencia, Spain. She then was granted a scholarship from her university which allowed her to undertake an internship for one year at the The Cliniques Universitaires Saint-Luc, Belgium, where she gained experience in the area of female fertility preservation. After this experience, she moved back to Spain to undertake a Master’s Degree in Reproductive biology, a time in which she started working as a Research Assistant at Igenomix, a well-renowned reproductive genetics company. Motivated by the field of clinical genetics and with the wish of growing as a scientist, she moved to Australia in 2016 thanks to a scholarship from the University of Queensland to pursue her PhD in Human Genetics which she completed in 2020 under the supervision of Prof Amanda Spurdle. After this productive period in which she published seven first-author research papers, she continued working as a Research Officer in the same laboratory.
Dr Fortuno is strongly motivated about undertaking research with implications in the clinical practice for the benefit of patients and the health industry.
The research of Dr Cristina Fortuno focuses on the clinical interpretation of inherited variants in cancer genes, and developing and applying comprehensive strategies to differentiate between disease-causing (pathogenic) and benign genetic variants. She has an expertise and special interest in TP53, a gene associated with high risk of cancers, specifically early-onset breast cancer and rare childhood cancers. She co-led the development of the first official TP53 variant classification guidelines in collaboration with expert members from across the globe (ClinGen TP53 Variant Curation Expert Panel). In addition to germline variant classification, she is also interested in the analysis of correlations between genotype and phenotype and estimation of specific cancer risk to optimise medical management of hereditary cancer patients.
2020 – Present: Human Genetics Society of Australasia
2019 – Present: ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles)
2017 – Present: ClinGen (Curating the Clinical Genome) TP53 Variant Curation Expert Panel
2016 – 2020: – PhD in Human Genetics, University of Queensland
2013 – 2015: – Master’s Degree in Biotechnology of Assisted Human Reproduction, University of Valencia, Spain
2008 – 2013: – Master of Science in Biotechnology, Polytechnic University of Valencia, Spain