YASEMİN ALANAY

Professor YASEMİN ALANAY is a distinguished academic and clinician at Acibadem Mehmet Ali Aydinlar University School of Medicine, Department of Medical Sciences. She has held significant leadership positions including Dean of the Medical School from 2015-2022 and currently serves as Manager of the Research and Application Center since 2023. Prior to joining Acibadem University in 2011, she was affiliated with Hacettepe University where she completed her medical training and advanced her career in pediatric genetics.

Her research interests span Pediatric Genetics, Skeletal Dysplasias, Genetic Bone Diseases, Medical Genetics, Child Health and Diseases, and Undiagnosed Rare Diseases. Dr. Alanay's work has significantly contributed to understanding the genetic basis of skeletal disorders, particularly through her discovery of the FKBP10 gene in osteogenesis imperfecta during her postdoctoral fellowship at UCLA-Cedars Sinai Medical Center. Her research has evolved from gene identification to treatment development and addressing undiagnosed patients.

Analysis of her recent publications reveals a strong focus on rare genetic disorders, with particular emphasis on skeletal dysplasias like achondroplasia. Her work on vosoritide treatment represents significant clinical contributions to growth disorder management. She has also pioneered research in undiagnosed diseases, whole-genome sequencing diagnostics, and international collaborative approaches to rare disease research through initiatives like the Undiagnosed Hackathon.

• Hacettepe Science Promotion Award (2010)

Dr. Alanay has advised numerous thesis projects (3 listed in metrics) and has been instrumental in securing research funding for rare disease studies. Her leadership extends to international collaborations, having organized the International Skeletal Dysplasia Society meeting in Istanbul in 2015 and serving as its President. She was a Board Member of the European Society of Human Genetics from 2012-2017 and served on their Scientific Program Committee from 2018-2021.

She established the Skeletal Dysplasia Database at Hacettepe University, which enabled multinational collaborations in gene identification research. As a clinical geneticist and dysmorphologist, she was part of the Multidisciplinary Craniofacial Team at Hacettepe, establishing cohorts for undiagnosed craniofacial and craniosynostosis patients. Her current work continues to focus on advancing diagnostics and treatments for rare genetic disorders through her research center at Acibadem University.