
Prof. Dr. Tunahan Çakır
CSO, PhiTech Bioinformatics
Gebze, TR
Biography
Prof. Tunahan Çakır is the Co-founder and Chief Scientific Officer of PhiTech Bioinformatics, a company developing AI-powered RNA-Seq-based decision-support solutions for faster and more accurate diagnosis of rare diseases. At PhiTech, he leads the scientific strategy behind the Genomics & More platform, focusing on transforming transcriptome data into clinically actionable diagnostic insights for clinical laboratories and healthcare providers.
He received his B.Sc, M.Sc and Ph.D degrees from the Department of Chemical Engineering at Boğaziçi University, Turkey. He has previously worked on computational systems biology research projects at Technical University of Denmark, University Medical Center Utrecht, and University of Amsterdam. Alongside his role at PhiTech, he is a faculty member at the Department of Bioengineering at Gebze Technical University. He has co-authored about 60 scientific articles in computational analysis of transcriptome data, focusing on disease mechanisms and diagnostic and therapeutic target discovery. He is the recipient of the Young Scientist Outstanding Achievement Award (GEBIP) from the Turkish Academy of Sciences (2015), the Research Incentive Award from the METU Prof. Mustafa Parlar Foundation (2017), and the Doctoral Thesis of the Year Award in the Science and Engineering from the Turkish Council of Higher Education (YÖK), as a thesis advisor (2025).
Title: Diagnostic Transcriptome in Rare Diseases
Abstract
Current clinical practice in the molecular diagnosis of rare diseases relies on DNA-based tests; however, about 60% of patients remain undiagnosed. RNA sequencing has demonstrated significant diagnostic potential for these DNA-negative cases. The talk will detail how transcriptome analysis can enable diagnoses in cases where DNA-based tests fail to provide information. These concepts will be illustrated through the Genomics & More platform, PhiTech’s AI-powered diagnostic decision support platform.
