!!Tayfun Özçelik - Biography
\\
Prof. Dr. Tayfun Özçelik, MD, is a physician-scientist and human geneticist who has made sustained contributions to the interface of gene discovery, variant interpretation, and genomic medicine. Over four decades, his research has linked genetic variation to biological mechanism and clinical translation, from identifying SNRPN in the Prader–Willi syndrome region and elucidating PMP22 dosage mechanisms, to leading modern studies in circadian, neurodevelopmental, and immunogenetic disorders. A consistent hallmark of his program is the use of rigorous human-genetic evidence, often leveraging family-based and consanguinity-informed study designs, followed by computational and translational approaches aimed at clinically meaningful interpretation.\\
\\
At Bilkent University, where he is a founding faculty member of the Department of Molecular Biology and Genetics, he has combined sustained research excellence with institution-building as Department Chair and Dean of Science (2012–2025). Notable achievements include the discovery of a CRY1 mutation causing familial delayed sleep phase disorder (Cell, 2017) and its behavioral extensions (J Clin Invest., 2020), the population-genetic characterization of Türkiye (PNAS, 2021), and key contributions to the COVID Human Genetic Effort (Science, 2020; Nature, 2022) uncovering inborn errors of type I interferon immunity in severe COVID-19. His population-genomics contributions include building resources that document high levels of variation and admixture, catalog homozygous loss-of-function variants, and provide reference frameworks that facilitate downstream gene discovery and association studies. In parallel, he has led an active methodological agenda in computational variant interpretation and gene–disease inference, aiming to make prediction of variant impact more biologically faithful and clinically useful.\\
\\
Earlier, he established Türkiye’s first academic Department of Genetics at İstanbul University Faculty of Medicine and helped build national genomic capacity, work that catalyzed the country’s modern genetics infrastructure. Internationally, he has played leadership roles in the European Society of Human Genetics, including service as Chair of its Education Committee (2011–2015) and Board Member (2008–2013), fostering training and collaboration across Europe. He has also contributed to sustained, high-level international collaboration and team science, including participation in major multi-center efforts and competitive networks focused on cardiometabolic disorders and human immunogenetics.\\
\\
Elected Principal Member of the Turkish Academy of Sciences (2009), he has received the TÜBİTAK Science Award (2012) and was named an American Society of Human Genetics “Thought Leader” (2023). His broader engagement includes science–art intersections with multiple Nature Genetics covers reflecting a career devoted to connecting discovery, education, and culture within the life sciences.\\ \\[{ALLOW view All}][{ALLOW edit tozcelik}][{ALLOW upload tozcelik}][{ALLOW comment All}]