Periklis MAKRYTHANASIS

Periklis Makrythanasis, MD, PhD, is an Associate Professor of Medical Genetics at the National and Kapodistrian University of Athens (NKUA) and a clinical geneticist at the “Agia Sofia” Children’s Hospital, one of the largest tertiary pediatric centers in Greece. He is affiliated with the Laboratory of Medical Genetics, a nationally recognized specialized diagnostic laboratory for rare genetic diseases.

Dr. Makrythanasis has extensive experience at the interface of clinical and laboratory genetics, with a particular focus on rare diseases, genomic diagnostics, and genotype–phenotype correlations. His work integrates advanced genomic technologies, including next-generation sequencing, into clinical practice, contributing to improved diagnostic yield and patient care.

He has participated in numerous national and international research collaborations and has contributed to the identification of novel disease genes and molecular mechanisms. His academic activity includes teaching medical students and postgraduate trainees, as well as mentoring residents in Medical Genetics.

Dr. Makrythanasis is actively involved in European professional and scientific initiatives and contributes to the development of standards in genetic diagnostics and counseling. His work also extends to ethical and policy aspects of genomics, including data governance and the implementation of genomic medicine in healthcare systems.