Research Areas
Yasemin Alanay, M.D., Ph.D.
- Rare / Undiagnosed Diseases
- Individualized Genomic Diagnosis
- Deep phenotyping
- Genetic diseases of bone
- Cerebral palsy and neurodevelopmental diseases
- Craniofacial malformations
Next-generation sequencing has revolutionized the diagnostic process in clinical genetics, ending the “diagnostic Odyses” for many families. Genomic treatments are on the horizon. Alanay Research Group, aims to translate research questions from the clinic/bed-side to the laboratory in research areas of our interest.
Our team:
Yasemin Alanay, M.D., Ph.D. (Pediatric Geneticist) Özlem Akgün Doğan, M.D., Ph.Ds (Pediatric Geneticist) Hande Akcakaya, M.D., Ph.D. (Neurologist, Postdoctoral Fellow)
Recent Publications:
Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial.
Savarirayan R, Tofts L, Irving M, Wilcox W, Bacino CA, Hoover-Fong J, Ullot Font R, Harmatz P, Rutsch F, Bober MB, Polgreen LE, Ginebreda I, Mohnike K, Charrow J, Hoernschemeyer D, Ozono K, Alanay Y, Arundel P, Kagami S, Yasui N, White KK, Saal HM, Leiva-Gea A, Luna-González F, Mochizuki H, Basel D, Porco DM, Jayaram K, Fisheleva E, Huntsman-Labed A, Day J.Lancet. 2020 Sep 5;396(10252):684-692. doi: 10.1016/S0140-6736(20)31541-5.PMID: 32891212 Clinical Trial.
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.
Bertoli-Avella AM, Beetz C, Ameziane N, Rocha ME, Guatibonza P, Pereira C, Calvo M, Herrera-Ordonez N, Segura-Castel M, Diego-Alvarez D, Zawada M, Kandaswamy KK, Werber M, Paknia O, Zielske S, Ugrinovski D, Warnack G, Kampe K, Iurașcu MI, Cozma C, Vogel F, Alhashem A, Hertecant J, Al-Shamsi AM, Alswaid AF, Eyaid W, Al Mutairi F, Alfares A, Albalwi MA, Alfadhel M, Al-Sannaa NA, Reardon W, Alanay Y, Rolfs A, Bauer P.Eur J Hum Genet. 2021 Jan;29(1):141-153. doi: 10.1038/s41431-020-00713-9. Epub 2020 Aug 28.PMID: 32860008 Free PMC article.