Teodora Barbarii

My name is Teodora Barbarii and I’m a Medical Geneticist in training in Bucharest, Romania with a particularly interested in studying rare neurodevelopmental and neurogenetic disorders.  

This year, I had the opportunity to attend the European Society of Human Genetics (ESHG) International Observership Programme for Young Geneticists. This programme enabled me to participate in a four-week internship in the Clinical Genetics Department at the Manchester Rare Conditions Center, in England, under the supervision of Prof. Siddharth Banka. 

During the programme, I participated in clinical consultations in paediatric and adult care liaising with patients and specialists within rare disorder field including neurology, cardiology, oncology (cancer), renal and metabolic diseases. My favorite clinics were the developmental delay clinic and chromatin disorders clinics as I had the opportunity to interact with newly diagnosed patients who had been identified by international research collaborative projects such as DDD study or 100,000 Genomes Project.  

I also learned about several genetic laboratory protocols and technologies such as RNA sequencing and DNA Methylation Arrays as well as specific guidelines used for gene variant interpretation and classification. I was introduced to the research activities within the center such as disease-gene discovery workflows and genotype-phenotype studies.  

During the 4 weeks, I participated in various activities held across the department such as weekly departmental meetings, Multi-Disciplinary-Team (MDT) meetings, laboratory meetings, and educational seminars. I also had the chance to interact with other young doctors and scientists involved in studying human genetics and established connections for possible collaborations in the future. 

Overall, the observership programme was an excellent educational experience. I was encouraged to engage in numerous scientific activities, carried out by world-renowned geneticists, in a public healthcare setting. I believe that participating in the programme, based in a prestigious genomic centre, is a must for every young geneticist’s academic journey.