SP2C: Progress in reproductive genetics

New data on the incidence and impact of DNA contamination affecting embryo samples used for PGT-A highlights the importance of diagnostic methods that allow contamination to be detected Georgina Clark, Laboratory Manager, Juno Genetics, UK

Georgina graduated from the University of Reading in 2015 with a BSc in Biomedical Sciences and then from University College London in 2018 with an MSc in Prenatal Genetics and Fetal Medicine. She is currently the Laboratory Manager of Juno Genetics, Oxford, where her main experience is in Preimplantation Genetic Testing for aneuploidies and structural rearrangements, and expanded carrier screening. In 2022, Georgina began reading for a DPhil with the Nuffield Department of Women’s and Reproductive Health, University of Oxford, under the supervision of Prof. Dagan Wells. Her research interests include epigenetics and factors influencing embryo viability. 

Gamete donor conception and direct-to-consumer genetic testing: How are donor conceived people, their parents and donors using direct-to-consumer genetic testing? Lucy Frith, Reader in Bioethics & Social Science, University of Manchester, UK

Systematic review and meta-analysis: Does pre-implantation genetic testing for aneuploidy at blastocyst stage improve live birth rate? Lorraine Kasaven, Clinical Research Fellow, Imperial College London, UK

Lorraine Kasaven is currently undertaking a PhD on various aspects of fertility preservation at Imperial College London. She graduated from the University of St Andrews in 2010 with a BSc in Medical Sciences and then from the University of Manchester in 2013 with an MBChB. She is an Obstetric and Gynaecology Specialist Registrar. Her research interests include elective oocyte cryopreservation, fertility sparing surgery in the management of borderline ovarian tumours and is currently a co-investigator of a randomized controlled trial to assess the use of intra-operative ultrasound as an adjunct of fertility preserving surgery.

Accurate mitochondrial DNA quantification clarifies the clinical value of measuring mtDNA in trophectoderm biopsy specimens, Katharina Spath, Research Supervisor, Juno Genetics, UK

Katharina Spath is a reproductive biologist specialising in the genetics of human reproduction. She obtained her BSc in Biology from the University of Bayreuth (Germany) in 2009 and her MSc in Reproductive Biology from the University of Edinburgh in 2011. She completed her PhD at the Nuffield Department of Women’s & Reproductive Health, University of Oxford in 2019. In her current role as Principal Research Scientist at Juno Genetics UK, she focuses on the development and application of molecular genetic techniques for the diagnosis and study of infertility-related conditions.

Polymorphic rearrangements of human chromosome 9: Correlation with male infertility Renata Finelli, Embryologist, Create Fertility, UK

Renata Finelli is a Medical Biotechnologist, with 7+ years of experience in the experimental research. She is specialized in human reproduction, with a PhD in Biotechnology of Reproduction. She loves the world of assisted reproduction, so she spent some months abroad during her PhD in a IVI clinic (Bilbao, Spain), where she learnt how to work in an ART lab, and in Cleveland Clinic (Cleveland, Ohio, USA), to learn more about the role of oxidative stress in male infertility. Currently, Renata Finelli is working as Junior Embryologist at CREATE Fertility in London, UK.

Preimplantation genetic testing for monogenic disease (PGT-M): Reliance on analysis of linked polymorphisms risks serious diagnostic errors Ayman Haj Ali, Senior Molecular Geneticist, Juno Genetics

Ayman Haj Ali (MSc in prenatal genetics and foetal medicine) has always been interested monogenic disorders due to the prevalence of hemoglobinopathies in the Eastern Mediterranean and especially when they affected some of his relatives. This piqued his interest in PGT-M with which he worked for more than three years at Juno Genetics combining direct mutation testing with linkage analysis. He recently started a DPhil in women’s reproductive health at the University of Oxford.