Perspectives from Georgios Stamoulis, Ph.D., Clinical Application Product Manager & Molecular Geneticist, SOPHiA GENETICS

In ancient times, Hippocrates combined an assessment of the four humors to determine the best course of treatment for each patient and to explain the disease state. The four humors were: black bile (melaine chole), yellow bile (xanthe chole), phlegm (phlegma), and blood (haima).

Today, we can make a parallel with the sequence of the four nucleotides (A, T, C, G) that comprise DNA, enable more accurate medical diagnoses and predictions, as well as personalized treatment plans.

Since my early BSc studies in Molecular Biology & Genetics, I was always intrigued by the fact that genetic variability among individuals makes each one of us unique on one side, but can also be the reason for the development of different pathogenic phenotypes and diseases. For this reason all of my next career steps were focused in order to develop myself as a scientist with strong knowledge in the field of Medical Genetics and Genetic diagnostics.

By gaining extensive experience in human genetic and genomic research for more than 10 years in different academic institutions including the University of Pennsylvania (USA), but also holding a Masters in Medical Genetics from the University of Glasgow (Scotland), and a PhD with additional post-doctoral studies in Human Genetics in the University of Geneva (Switzerland), I wanted to apply my knowledge and expertise in a more direct way for the benefit of diagnosis and treatment of patients and to bring closer the lab “bench” with the clinic “bed”.

During the first year of my PhD, I attended a presentation by SOPHiA GENETICS CEO, Jurgi Camblong at the very early stages of the company. I was instantly impressed by the mission. I thought, “They are looking forward to the future of medicine. This is what I want to do as well”, and this was the reason why SOPHiA GENETICS was the one and only company I sent my CV to, without applying to a specific job-opening. After two days I received a call for an informal interview and this confirmed to me the flexibility and the vision of SOPHiA GENETICS.

As a Clinical Application Product Manager and Geneticist at SOPHiA GENETICS, I’m responsible not only for developing new genomic applications but also for coordinating the entire process of the development of these applications between cross-functional teams from conception to launch. It’s a great feeling to launch such applications for patients to give them and their families valuable information about their health. My goal is to provide clinicians and geneticists with the best possible technology in order them to diagnose and treat their patients in a much more efficient and accurate way. At SOPHiA GENETICS, we democratize Data-Driven Medicine by allowing every hospital to access and use this cutting-edge technology, but also to share knowledge through SOPHiA’s Community.

What keeps me excited is the feeling that every five minutes, there’s someone somewhere in the world who is receiving an accurate diagnosis using our technologies and that some of them can also receive a more personalized treatment based on their genomic profile. Moreover, I am thrilled by the fact that through SOPHiA AI technology, the diagnosis of one person in Australia for example, can benefit another patient who has a similar genomic profile, in another part of the world.

Genomics is the evolution of medicine and healthcare. Nowadays, with the breakthrough technologies that exist, patients can get great benefits from this type of work. This field contains so much information and so many new innovations, it can never be dull. Working at SOPHiA GENETICS, the opportunities are endless in a fast-paced, dynamic, powerful, and friendly environment. There is always something new to discover and develop in order to help patients.

Our DNA is the book of life and by being able to “read” this book, you get access to the most exciting and interesting story out there.