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My name is Charlie Leboff a Master’s graduate in Biochemistry and Genetics from the United Kingdom. I recently completed my ARISE secondment hosted by the Molecular Genetics Thalassaemia department of the Cyprus Institute of Neurology and Genetics (CING) from January to March 2024.
Through my secondment, I have worked with my primary mentors at the CING, Coralea Stephanou and Marios Phylactides to train in molecular biology techniques including DNA amplification and sequencing techniques for the diagnosis of α- and β-thalassaemia. With this training I collaborated with Aliyu Waziri from Zaria, Nigeria and Marios Phylactides to genotype DNA samples of Sickle Cell Disease (SCD) patients brought to Cyprus from Zaria. I utilised Gap-PCR to identify samples with common α-thalassaemia deletion mutations.
My training in molecular biology techniques provided me with the skills to contribute to the INHERENT Genome Wide Association Study (GWAS). Supervised by Coralea Stephanou I utilised Agarose Gel Electrophoresis and DNA quantification to quality check samples sent to the CING from participating institutions around the world.
I also gained training in the programming language R/R studio for analysis of haemoglobinopathy epidemiological data. Working with a PhD student at the CING, Mikaella Kontopoulou, I curated data from epidemiological studies, analysed the data through a meta-analysis and mapped the analysed data on interactive maps using the R studio platform. One of the main objectives of my secondment was to expand my understanding of bioinformatics and data analysis. This objective was met in abundance, providing me with a highly valuable and transferable skill.
Alongside these activities, the CING have hosted a series of workshops covering many aspects of haemoglobinopathies, data collection and bioinformatics for ARISE secondees that has further enhanced my own and other secondees’ understanding of these topics. Greater understanding of bioinformatics and data analysis is a crucial aspect of modern biological research, so I am grateful to have been able to attend these workshops.
I would like to thank all my colleagues at the Cyprus Institute of Neurology and Genetics for being so warm and welcoming, and particularly my mentors at the Institute, Coralea Stephanou, Marios Phylactides and Mikaella Konotopoulou, for guiding me through this journey. I would also like to thank Prof. Baba Inusa and Kelley Price from Guy’s St Thomas’ NHS Foundation Trust and the Royal College of Pathologists, respectively, for helping to organise this brilliant secondment.