I am a PhD student at RCSI and I have been fortunate to receive the inaugural RCSI International Secondment Award.
Through this award, I have had the opportunity to travel to Spain for two months to expand my translational knowledge in cardiovascular genetics under the mentorship of Dr Ramon Brugada; a renowned expert within the field and the first person to identify a genetic link in Atrial Fibrillation at the 10q22–q24 loci. However, he is more known for his discovery with Brugada Syndrome, a type of inherited ventricular arrhythmia that is associated with sudden cardiac death.
The research component of this experience was conducted at the world class Cardiovascular Genetics Centre at the Biomedical Research Institute of Girona, which houses some of the most advanced genetic and cardiac technologies. The focus here was to enhance my understanding of the genetic mechanisms in Brugada Syndrome through using cellular electrophysiology techniques to characterise the function of SCN5A mutations, which form the alpha subunit of sodium channels in the heart. By using human induced Pluripotent Stem Cells derived Cardiomyocytes as a model system, I learned a new method to gently dissociate these cells for downstream experiments to maintain a healthy electrical state and cutting edge patch clamp techniques for recording sodium currents to determine functional capabilities.
Mastering these electrophysiological skills will allow me to characterise the sodium function in my dissertation, a crucial step for understanding the genetic defects related to NPPA gene mutations that result in Atrial Fibrillation.
The clinical component of this experience involved partaking in the cardiovascular genetic clinics at Josep Trueta Hospital and Sant Joan de Deu Hospital, which are academic hospitals for the University of Girona and the University of Barcelona respectively. This required traveling between Girona and Barcelona to attend the Children and Adult inherited arrhythmia and cardiomyopathy clinics to see patients being referred for a potential genetic cause for their cardiac condition. The delivery of care for these patients was done through a multidisciplinary approach and saliva samples for DNA were taken from patients and family members at time of clinic appointment. These samples were taken back to the laboratory and put into the pipeline for extraction, sequencing and informatics. If the variants identified were novel, functional testing was done. These results would be reported back to the clinical staff and decisions about treatment strategy would be conveyed to the families at their next follow up visit. To be involved in all levels of this process provided me with an in-depth look at the intricate steps required to implement a translational approach for patient care.
This was a once in a lifetime opportunity to learn and work alongside a pioneer within the field of cardiovascular genetics. It was an incredible experience that supported a rich clinical and talented scientific environment to learn in.
It taught me about the beautiful Catalan culture and has created many friendships, colleagues and mentors, things that will remain as a fond memory to me for years to come. I am extremely grateful that the RCSI International Secondment Award could facilitate such an experience for me and I strongly believe that this opportunity has provided me with the necessary skill set to successfully complete my dissertation and ultimately become a physician scientist in the near future.
Brandon Chalazan, PhD Scholar