HELIOS fourth Short-Term Scientific Mission “Training in Preimplantation Genetic Diagnosis of Monogenic Disorders: A Focus on Haemoglobinopathies”

Written by Dr Burak Durmaz, Ege University, Faculty of Medicine, Department of Medical Genetics, Izmir, Turkiye

I recently had the opportunity to participate in a Short-Term Scientific Mission (STSM) funded by the COST Action CA22119. My mission took place at National and Kapodistrian University of Athens, St. Sophia Children’s Hospital, Choremeio Research Laboratory – Laboratory of Medical Genetics from June 25th to July 5th, 2024, with the aim of expanding my expertise in preimplantation genetic diagnosis of monogenic disorders, with a specific focus on haemoglobinopathies.

During my stay, I engaged in a structured training program that blended both theoretical knowledge and hands-on laboratory work. I started by gaining a solid understanding of gene detection, primer design and short tandem repeat (STR) selection methods. The training covered various critical PGD techniques such as Polymerase Chain Reaction (PCR), Sanger sequencing, haplotype analysis and Next-Generation Sequencing (NGS), all crucial for identifying genetic mutations related to haemoglobinopathies.

One of the key aspects of this mission was enhancing my skills in bioinformatics tools to analyze and interpret genetic data accurately. By the end of the training, I was proficient in using these tools for real and simulated case analyses, which included troubleshooting typical challenges encountered during the PGD process.
The mission was highly successful, not only because it refined my technical abilities but also because it allowed me to contribute to my home institution by bringing back valuable knowledge and protocols. This will foster future collaboration within the COST Action CA22119 network, helping to standardize PGD protocols across institutions. Looking forward, I plan to implement these newly acquired techniques at Ege University, improving diagnostic outcomes for patients at risk of haemoglobinopathies. Moreover, we have already outlined follow-up activities, which include continued research collaboration and the possibility of future joint publications.

I am incredibly grateful to the COST Action CA22119 for funding this mission and to Prof. Dr. Jan Traeger-Synodinos, Dr. Chrisitna Vrettou, Dr. Thalia Mamas, Dr. Georgia Kakourou, Stavros Chatz and all the lab staff and personnel for providing such comprehensive training. The experience will greatly impact my future work in genetic diagnosis and research.