Disease gene discovery for muscular dystrophies, myopathies and brain malformations.
Molecular disease mechanisms in congenital muscular dystrophies in particular dystroglycanopathies.
Protein biochemistry of enzymes involved in dystroglycan glycosylation and its translational application.
Translational research, natural history and biomarkers discovery for CMD and LGMD.
Natural history studies and Biomarker discovery for DMD.
RNA therapeutics and further development of exon skipping therapies for DMD.
Pergande M, Motameny S, Özdemir Ö, Kreutzer M, Wang H, Daimagüler HS, Becker K, Karakaya M, Ehrhardt H, Elcioglu N, Ostojic S, Chao CM, Kawalia A, Duman Ö, Koy A, Hahn A, Reimann J, Schoner K, Schänzer A, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille M, von Pein H, Haliloglu G, Topaloglu H, Altmüller J, Nürnberg P, Thiele H, Heller R, Cirak S. The genomic and clinical landscape of fetal akinesia. Genet Med. 2019 Nov 4. doi: 10.1038/s41436-019-0680-1. [Epub ahead of print] PubMed PMID: 31680123.
Wang H, Kaçar Bayram A, Sprute R, Ozdemir O, Cooper E, Pergande M, Efthymiou S, Nedic I, Mazaheri N, Stumpfe K, Azizi Malamiri R, Shariati G, Zeighami J, Bayram N, Naghibzadeh SK, Tajik M, Yaşar M, Sami Güven A, Bibi F, Sultan T, Salpietro V, Houlden H, Per H, Galehdari H, Shalbafan B, Jamshidi Y, Cirak S. Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking. Front Neurosci. 2019 Oct 14;13:974. doi: 10.3389/fnins.2019.00974. eCollection 2019. PubMed PMID: 31680794; PubMed Central PMCID: PMC6807680.
Dafsari HS, Sprute R, Wunderlich G, Daimagüler HS, Karaca E, Contreras A, Becker K, Schulze-Rhonhof M, Kiening K, Karakulak T, Kloss M, Horn A, Pauls A, Nürnberg P, Altmüller J, Thiele H, Assmann B, Koy A, Cirak S. Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia. J Hum Genet. 2019 Aug;64(8):803-813. doi: 10.1038/s10038-019-0625-1.
Epub 2019 Jun 5. Erratum in: J Hum Genet. 2019 Aug 6;:. PubMed PMID: 31165786.
Clinic and Polyclinic for Pediatric and Adolescent Medicine / RG location - CMMC Building
CMMC - assoc. Junior Research Group 02
sebahattin.cirak[at]uk-koeln.de
show more…+49 221 478 89680
+49 221 478 7789
Clinic and Polyclinic for Pediatric and Adolescent Medicine / RG location - CMMC Building
Robert-Koch-Str. 21
50931 Cologne
https://kinderklinik.uk-koeln.de/forschung/musculo-skelettale-erkrankungen/
Dr. Daniel Bamborschke, medical doktor
Lea Beensen, student
Hülya-Sevcan Daimagüler, PhD student
Herrera Oskar, BA-Student
Mona Kreutzer, MD student
Dr. Abubakar Moawia, Postdoc
Dr. Özkan Ozdemir, Postdoc
Rosanne Sprute, physician/doctoral student
Nasir Uddin, MA-student