Kakha Bregvadze

My Mentorship Experience at the Manchester Centre for Genomic Medicine, St Mary’s Hospital – June 2024

My name is Kakha Bregvadze, and I am a Dermatologist and Clinical Geneticist in training from Tbilisi, Georgia. In June 2024, I had the privilege of participating in the European Society of Human Genetics (ESHG) Mentorship Programme, which provided me with the opportunity to observe and learn at the Manchester Centre for Genomic Medicine (MCGM), St Mary’s Hospital, under the generous mentorship of Professor Siddharth Banka.

During my time at MCGM, I attended a variety of clinics, including those focused on endocrine, ophthalmologic, and neurodevelopmental conditions. This hands-on experience gave me a well-rounded understanding of clinical genetics practice. One of the most memorable moments was encountering a case of Börjeson-Forssman-Lehmann syndrome, an ultra-rare genetic condition diagnosed through episignature analysis. I also participated in various departmental activities, such as weekly meetings, educational seminars, and engaging discussions with the clinical team.

Beyond the clinical rotations, I had the opportunity to attend the British Association of Dermatologists’ annual meeting, which allowed me to further explore my interest in skin genetics and gain valuable insights from Professor Banka’s presentation.

Currently, as part of the Georgian team, I am collaborating with Professor Banka and his colleagues on a research project evaluating DNA methylation episignatures for diagnostic testing. We are investigating the potential use of DNA methylation arrays as a first-tier diagnostic tool in individuals suspected with single gene, imprinting or trinucleotide repeat expansion disorders.

I am deeply grateful to Professor Banka and his team for their guidance and support, as well as to the ESHG for providing this exceptional opportunity.

I look forward to applying the knowledge and insights gained from this experience to benefit patients and their families in Georgia while continuing to grow in my medical and genetic career.

Kakha Bregvadze, MD