Hülya Kayserili, MD. PhD., is a professor of medical genetics and chief of   Medical Genetics Department & Diagnostic Center for Genetic Diseases at   Koc University School of  Medicine (KUSoM), İstanbul, Turkey.

She has graduated from İstanbul Medical Faculty, and has earned her PhD on genetics at Institute of Health Sciences of Istanbul University. She became associate professor at 2000, and full professor at 2009. She has been a visiting post-doc and scholar at different institutes betwen 1993-2007 (UCLA, Cedar Sinai, LA-USA; Cardiff University, UK; Academisch Medisch Centrum & Free University of Amsterdam, the Netherlands). Dr. Kayserili’s area of expertise is clinical genetics focusing mainly on syndromology, neurogenetics and prenatal genetics.  Dr. Kayserili’s group investigates 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].  Dr. Kayserili’s group clinically delineates new syndromes, and works on the classifications of known phenotypes, on the identification of the gene/s involved, on functional assays 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 tailor-made treatment models for single gene disorders in the new era of translational genetics.

Selected publications;

• Szenker-Ravi E, Altunoglu U, Leushacke M, Bosso-Lefèvre C, Khatoo M, Thi Tran H, Naert T, Noelanders R, Hajamohideen A, Beneteau C, de Sousa SB, Karaman B, Latypova X, Başaran S, Yücel EB, Tan TT, Vlaminck L, Nayak SS, Shukla A, Girisha KM, Le Caignec C, Soshnikova N, Uyguner ZO, Vleminckx K, Barker N, Kayserili H,Reversade B. RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6. Nature. 2018 May;557(7706):564-569. doi: 10.1038/s41586-018-0118-y. Epub 2018May 16. Erratum in Nature 2018 Sep:561(7722):E7
• Lupiáñez DG, Kraft K, Heinrich V, Krawitz P, Brancati F, Klopocki E, Horn D, Kayserili H, Opitz JM, Laxova R, Santos-Simarro F, Gilbert-Dussardier B, Wittler L, Borschiwer M, Haas SA, Osterwalder M, Franke M, Timmermann B, Hecht J, Spielmann M, Visel A, Mundlos S. Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions.2015 May 6. pii: S0092-8674(15)00377-3. doi: 10.1016/j.cell.2015.04.004.

• Uyguner ZO, Toksoy G, Altunoglu U, Ozgur H, Basaran S, Kayserili H. A new hereditary congenital facial palsy case supports arg5 in HOX-DNA binding domain as possible hot spot for mutations.Eur J Med Genet. 2015 Jun-Jul;58(6-7):358-63. doi: 10.1016/j.ejmg.2015.05.003.

• Bonnard C, Strobl AC, Shboul M, Lee H, Merriman B, Nelson SF, Ababneh OH, Uz E, Güran T, Kayserili H, Hamamy H, Reversade B. Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.Nat Genet. 2012 May 13;44(6):709-13. doi: 10.1038/ng.2259

• Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, Yigit G, Uyguner O, Candan S, Okur H, Kaygin S, Balci S, Mavili E, Alikasifoglu M, Haase I, Wollnik B, Akarsu NA. ALX4 dysfunction disrupts craniofacial and epidermal development.Hum Mol Genet. 2009 Nov 15;18(22):4357-66. doi: 10.1093/hmg/ddp391.