Sebahattin Cirak - assoc. JRG I

Muscular disorder

Group research focus
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.

Selected publications 2016

Scotton C, Bovolenta M, Schwartz E, Falzarano MS, Martoni E, Passarelli C, Armaroli A, Osman H, Rodolico C, Messina S, Pegoraro E, D'Amico A, Bertini E, Gualandi F, Neri M, Selvatici R, Boffi P, Maioli MA, Lochmüller H, Straub V, Bushby K, Castrignanò T, Pesole G, Sabatelli P, Merlini L, Braghetta P, Bonaldo P, Bernardi P, Foley R, Cirak S, Zaharieva I, Muntoni F, Capitanio D, Gelfi C, Kotelnikova E, Yuryev A, Lebowitz M, Zhang X, Hodge B, Esser KA, Ferlini A. Deep RNA profiling identified clock and molecular clock genes as pathophysiological signatures in collagen VI myopathy. J Cell Sci. 2016 Mar 4. pii: jcs.175927.[Epub ahead of print]

Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Pérez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Pérez-Cerdá C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ. CCDC115 Deficiency Causes a Disorder ofGolgi Homeostasis with Abnormal Protein Glycosylation. Am J Hum Genet. 2016 Feb4;98(2):310-21.

Willkomm L, Heredia R, Hoffmann K, Wang H, Voit T, Hoffman EP, Cirak S. Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia. J Hum Genet. 2016 Feb 18.

Chamova T, Guergueltcheva V, Gospodinova M, Krause S, Cirak S, Kaprelyan A, Angelova L, Mihaylova V, Bichev S, Chandler D, Naydenov E, Grudkova M, Djukmedzhiev P, Voit T, Pogoryelova O, Lochmüller H, Goebel HH, Bahlo M, Kalaydjieva L, Tournev I. GNE myopathy in Roma patients homozygous for the p.I618T founder mutation. Neuromuscul Disord. 2015 Sep;25(9):713-8. 

Huang J, Howie B, McCarthy S, Memari Y, Walter K, Min JL, Danecek P, Malerba G, Trabetti E, Zheng HF; UK10K Consortium (including Cirak S), Gambaro G, Richards JB, Durbin R, Timpson NJ, Marchini J, Soranzo N. Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel. Nat Commun. 2015 Sep 14;6:8111.

Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM; UK10K (including Cirak S), Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun. 2015 Jun 5;6:7074.

Taylor PN, Porcu E, Chew S, Campbell PJ, Traglia M, Brown SJ, Mullin BH, Shihab HA, Min J, Walter K, Memari Y, Huang J, Barnes MR, Beilby JP, Charoen P, Danecek P, Dudbridge F, Forgetta V, Greenwood C, Grundberg E, Johnson AD, Hui J, Lim EM, McCarthy S, Muddyman D, Panicker V, Perry JR, Bell JT, Yuan W, Relton C, Gaunt T, Schlessinger D, Abecasis G, Cucca F, Surdulescu GL, Woltersdorf W, Zeggini E, Zheng HF, Toniolo D, Dayan CM, Naitza S, Walsh JP, Spector T, Davey Smith G, Durbin R, Richards JB, Sanna S, Soranzo N, Timpson NJ, Wilson SG; UK0K Consortium (including Cirak S) Whole-genome sequence-based analysis of thyroid function. Nat Commun. 2015 Mar 6;6:5681.

UK10K Consortium (including Cirak S), Walter K, Min JL, Huang J, Crooks L, Memari Y, McCarthy S, Perry JR, Xu C, Futema M, Lawson D, Iotchkova V, Schiffels S, Hendricks AE, Danecek P, Li R, Floyd J, Wain LV, Barroso I, Humphries SE, Hurles ME, Zeggini E, Barrett JC, Plagnol V, Richards JB, Greenwood CM, Timpson NJ, Durbin R, Soranzo N. The UK10K project identifies rare variants in health and disease. Nature. 2015 Oct 1;526(7571):82-90.

Selected publications 2014

Hathout Y, Marathi RL, Rayavarapu S, Zhang A, Brown KJ, Seol H, Gordish-Dressman H, Cirak S, Bello L, Nagaraju K, Partridge T, Hoffman EP, Takeda S, Mah JK, Henricson E, McDonald C.Discovery of Serum Protein Biomarkers in the mdx mouse model and cross-species comparison to Duchenne Muscular Dystrophy patients.Hum Mol Genet.2014 Dec 15;23(24):6458-69. doi: 10.1093/hmg/ddu366. Epub 2014 Jul 15.

Ayoglu B, Chaouch A, Lochmüller H, Politano L, Bertini E, Spitali P, Hiller M,Niks EH, Gualandi F, Pontén F, Bushby K, Aartsma-Rus A, Schwartz E, Le Priol Y,Straub V, Uhlén M, Cirak S, 't Hoen PA, Muntoni F, Ferlini A, Schwenk JM, NilssonP, Al-Khalili Szigyarto C.Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies. EMBO Mol Med. 2014 Jun 11;6(7):918-36.

Rainger J, Pehlivan D, Johansson S, Bengani H, Sanchez-Pulido L, WilliamsonKA, Ture M, Barker H,Rosendahl K, Spranger J, Horn D, Meynert A, Floyd JA,Prescott T, Anderson CA, Rainger JK, Karaca E, Gonzaga-Jauregui C, Jhangiani S, Muzny DM, Seawright A, Soares DC, Kharbanda M, Murday V, Finch A; UK10K (including Cirak S); Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, van Heyningen V, Taylor MS, Yakut T, Knappskog PM, Hurles ME, Ponting CP, Lupski JR, Houge G, FitzPatrick DR. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet. 2014 Jun 5;94(6):915-23. doi: 10.1016/j.ajhg.2014.05.005.

Lu QL, Cirak S, Partridge T. What Can We Learn From Clinical Trials of Exon Skipping for DMD? Mol Ther Nucleic Acids. 2014 Mar 11;3:e152. doi: 10.1038/mtna.2014.6.

Williamson KA, Rainger J, Floyd JA, Ansari M, Meynert A, Aldridge KV, Rainger JK, Anderson CA, Moore AT, Hurles ME, Clarke A, van Heyningen V, Verloes A, Taylor MS, Wilkie AO; UK10K Consortium (including Cirak S), Fitzpatrick DR. Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects. Am J Hum Genet. 2014 Feb 6;94(2):295-302. doi: 10.1016/j.ajhg.2014.01.001. Epub 2014 Jan 23.


Dr. med. Sebahattin Cirak

Dept. for Pediatrics and Adolescent Medicine

Dr. med. Sebahattin Cirak

associated CMMC-JRG I / Principal Investigator CAP 1

sebahattin.cirak@uk-koeln.de

Work +49 221 478 4693

Center of Pediatrics and Adolescent Medicine
Kerpener Str. 34
50931 Cologne

https://kinderklinik.uk-koeln.de/erkrankungen-therapien/muskelzentrum/

Robert-Koch-Str. 21
50931 Cologne

Publications - Sebahattin Cirak

Link to PubMed