Hülya Kayserili Karabey

Clinical genetics focusing on neurogenetics and prenatal genetics, rare single gene disorders and dysmorphology. The etiopathogenesis of rare, very rare craniofacial dysmorphic syndromes and limb malformations. Frontonasal dysplasias and Moebius syndrome has been the main focus of her studies since 2008, through CRANIRARE and CRANIRARE2 consortiums [ E-Rare (ERA-Net for research programs for rare diseases) network supported by European Commission under the Seventh Framework Program]. Clinically delineates new syndromes, classifications of broad phenotypes, on the identification of the gene/s involved, on functional assays, model organisms to elucidate various signaling/metabolic pathways and crosstalks. Recently, rare neuromuscular disorders have been also included among the research topics, in view of the expanding new technologies, gene-editing, leading to the tailor-made treatment models for single gene disorders in the new era of translational genetics. Her work is supported by TÜBİTAK, FP7 Programme, and KU-SEED Funds..