Prof. Dr. Yasemin Alanay, MD, PhD (Talk Topic: Let No Child Remain Undiagnosed: ACURARE and the İstanbul Undiagnosed Patient Program (UDP-İST))
Prof. Dr. Yasemin Alanay, MD, PhD, graduated from the Faculty of Medicine (English Program) at Hacettepe University. She completed her residency training in the Department of Pediatrics at Hacettepe University between 1997 and 2002, served as Chief Resident during 2001–2002, and subsequently began working as a specialist in the Pediatric Genetics Unit.
In 2005–2006, she received a TÜBİTAK Postdoctoral Research Fellowship and trained at the Skeletal Dysplasia Fellowship Program at the UCLA–Cedars-Sinai Medical Center in Los Angeles, USA. Under the mentorship of Prof. David Rimoin, Prof. Ralph Lachman, and Prof. Deborah Krakow, her gene discovery project led to the identification of a novel autosomal recessive gene in osteogenesis imperfecta (FKBP10). This discovery became a major milestone in understanding the intracellular mechanisms of the disease.
She became an Associate Professor in 2008 and obtained her PhD in Medical Genetics in 2009. In 2010, she was awarded the Hacettepe University Science Encouragement Award. In 2011, when pediatric genetic diseases were first recognized as a subspecialty in Turkey, she was among the first physicians to receive this certification. In the same year, she moved to Istanbul and joined Acıbadem University School of Medicine, becoming a Professor in 2013.
Between 2015 and 2022, she served as Dean of the Faculty of Medicine at Acıbadem University. Since 2023, she has been serving as the Director of ACURARE – Acıbadem University Rare Diseases and Orphan Drugs Research and Application Center.
Prof. Alanay has contributed as principal investigator to numerous multicenter studies in Europe and the United States, and has authored over 200 peer-reviewed publications (WoS H-index: 42; Scopus H-index: 45), making significant contributions to the field.
In 2015, she organized the International Skeletal Dysplasia Society (ISDS) Congress in Istanbul and served as President of the Society. She was a Board Member of the European Society of Human Genetics (ESHG) from 2012 to 2017 and a member of its Scientific Program Committee from 2018 to 2021.
Her main areas of interest include childhood genetic disorders, clinical genetics, skeletal dysplasias, craniofacial genetics, and undiagnosed rare diseases.
