My fascination with science ignited in high school biology, sparked by the realization that simple elements – carbon, hydrogen, oxygen, and nitrogen – could orchestrate such intricate phenomena. The discovery of the genetic code amplified this wonder, promising a wealth of answers at our fingertips.
However, delving deeper into genetics revealed a landscape brimming with questions. My interest gravitated towards incurable diseases, particularly those stemming from genes associated with unfavorable traits. These questions intensified during my studies in Greece at the University of Athens, where my passion for medical genetics truly took root. Finding no specialized programs in Greece for advanced training in this field, I embarked on a journey to the United States, pursuing pediatrics and genetics to further my expertise.
Now, my primary focus is supporting families navigating the complexities of genetic conditions. In my practice, I specialize in evaluating children who may have genetic disorders. My particular interest lies in genomic microdeletions and microduplications – subtle mutations linked to various conditions, including autism. I am committed to furthering research into these mutations in the future.
DNA double helix model
A significant aspect of my work involves patient and parent education. Often, they are unaware of the natural randomness inherent in gene variation and distribution. I strive to alleviate the guilt that can accompany a genetic disease diagnosis by explaining that new mutations arise spontaneously in nature. It’s crucial for them to understand that the transmission of DNA to their children is not a matter of choice or fault.
Guiding families, parents, and children affected by genetic conditions towards the appropriate specialized care is incredibly rewarding. I am passionate about easing their journey by empowering them with the understanding that a DNA mutation is a natural occurrence, beyond human control. Being an integral part of family discussions and decisions during deeply personal, and often challenging times, is a privilege and responsibility that extends far beyond the typical scope of professional duties.
Beyond patient care, I am dedicated to educating the next generation of medical professionals. I actively participate in teaching first- and third-year medical students, as well as residents and fellows. My aim is to impart a comprehensive understanding of the core characteristics of genetic syndromes, emphasize the importance of timely diagnosis communication, and ensure familiarity with the ongoing advancements in the dynamic field of medical genetics.
