Dr. Stylianos Z. Karoulias grew up in Greece, where he studied Biochemistry and Biotechnology in the University of Thessaly and earned a Master’s degree in Molecular Biology and Genetics Applications from the University of Thessaly and a PhD degree in Biochemistry from the Aristotle University of Thessaloniki.

The focus of his PhD research was to identify the functional role of protein domains that participate in cell differentiation and biosensors development. The goal was to achieve bone tissue regeneration towards the development of a novel biomaterial applicable in orthopedics, healing fractures. He always wanted to utilize his skills and knowledge in Biochemistry and Biotechnology and contribute to therapeutic research. Now he is working at Mount Sinai, as a Postdoctoral Scientist studying rare musculoskeletal diseases and he is the recipient of the Young Investigator Award for 2020 of the 9^th Musculoskeletal Repair and Regeneration Symposium at the Einstein College of Medicine in New York. 

The National Herald: What led you to the field of medicine?

Stylianos Karoulias: My father is a medical doctor in Greece and I grew up listening to fascinating hospital stories about struggles, triumphs, and new therapies that inspired me and motivated me. As a high school student, I was impressed when I was taught that life is organized through a special genetic code, DNA, and that changes in this code, called mutations, can lead to diseases. I think it was curiosity and compassion that led me to study Biochemistry and Biotechnology. I was amazed by the fact that Biotechnology can fix genetic mistakes, cure a wide spectrum of diseases, and help people survive and live a normal life.

TNH: How did you decide to move to the United States?

SK: When I completed my Master’s studies and before my PhD research, I joined a lab here in New York at Mount Sinai for some months and I realized that there is no better place to do science than the United States. I was impressed by the resources and the fact that very smart people with diverse backgrounds and experiences were bringing their expertise to work together and answer specific scientific questions. By the time I completed my PhD studies, I was sure that I wanted to move to the United States to pursue a career and be part of groundbreaking research. That’s why I decided to join Dr. Hubmacher’s lab in the Department of Orthopaedics in Icahn School of Medicine at Mount Sinai. Mount Sinai is an amazing place to do research at the highest level and I am really happy and grateful to be part of it under the great mentorship and support of Dr. Hubmacher.  

TNH: What is the definition of ‘rare disease’ and how did you become interested in this field?

SK: ‘Rare disease’ is what we call any disease that affects a small percentage of the general population. Research in this field in very important and interesting, because it can drive innovative approaches that are enabling for precision medicine. At the same time, I believe that studying rare diseases can provide something more than that. These diseases can serve as unique tools and models. Understanding the pathomechanisms of rare diseases can reveal complex unknown biological mechanisms that can be applied in many other diseases like cancer or diabetes. 

TNH: What causes a rare disease and how many such diseases are there?

SK: There are around 7000 rare diseases and the number of the Americans living with a rare disease is almost 30 million. Approximately two-thirds of Americans with rare diseases are children. Globally, it is estimated that as many as 350 million people are suffering from rare diseases. That means that while some diseases are rare, the total number of people living with a rare disease is huge. There are many different causes of rare diseases. Most of them are genetic; caused by mutations in genes that can be passed from one generation to the next. Some are apparent at birth, while others do not appear until much later in life.

TNH: What rare disease are you working on right now?

SK: I am working on Weill-Marchesani syndrome (WMS). It is a rare disease that affects the musculoskeletal system, the eye, and the cardiovascular system. Individuals with WMS present with severe short stature, joint contractures, thick skin, microspherophakia, small and dislocated lenses, and cardiac valve anomalies. My studies have revealed so far important mechanistic insights on how proteins that are compromised in WMS cab cooperate in order to determine bone length. Our published work has paved the way for pre-clinical intervention studies with the overall goal of ameliorating short stature in individuals with WMS and related acromelic dyspalsias. Our follow-up review paper summarizes our understanding of pathomechanisms of rare diseases, as well as future perspectives in the field. More and very interesting studies from Dr. Hubmacher’s lab are currently underway.