CURE-Net - Network for congenital urorectal Malformations
Congenital malformations arise by reason of embryonic aberration of the uro-rectal septum and pose an enormous challenge for patients and their families. Because continence is already affected at birth, lifelong physical and mental health outcomes are frequently affected by these malformations. Malformations of the uro-rectal septum include anorectal malformations (ARM) and the exstrophy-epispadias-complex (EEC). Their overall birth prevalence has been estimated to be 1:2500 live births, leading to approximately 280 affected newborns in Germany every year.
The Network for Congenital Uro-REctal malformations (CURE-Net) is a federal program for the research of these rare diseases funded by the German Federal Ministry of Education and Research. The aim is to use modern genetic and molecular biological research to understand the causes of uro-rectal malformations and to evaluate the postoperative treatment outcome and different aftercare procedures by multicenter, clinical and psychosocial research via standardized examination procedures prospectively and by a cross-sectional study.
Projekte- Patientenregister für angeborene uro-rektale Fehlbildungen (Dr. E. Jenetzky, Heidelberg)
- DNA-Biomaterialbank und systematische Genidentifizierung bei ARM und EEC (Dr. H. Reutter, Bonn)
- Klinische Studien bei Anorektalen Malformationen (ARM) (Dr. E. Schmiedeke, Bremen)
- Klinische Studien bei Ekstrophie-Epispadie-Komplex (EEC) (Prof. A.K. Ebert, Ulm)
- mehrere Arbeitsgruppen zu Nachsorge, Lebensqualiltät, Klasifikation, Öffentlichkeitsarbeit u.a.
Nicole Schwarzer
CURE-NET Koordination und Vertretung der Patienteninteressen SoMA e.V.
Weidmannstrannstr. 51, 80997 München
E-Mail: schwarzer@cure-net.de
PD Dr. Heiko Reutter
CURE-Net Biobank am
Institut für Humangenetik
Universitätsklinikum Bonn
Sigmund-Freud Str. 25, 53127 Bonn
E-Mail: reutter@uni-bonn.de
Dr. Ekkehart Jenetzky
Dipl. Psych. Markus Homberg (Register)
CURE-Net Register an der
Klinik und Poliklinik für Kinder- und Jugendpsychiatrie,
Universitätsmedizin Mainz
Langenbeckstr. 1
D-55131 Mainz
Tel: 06131 / 173878
E-Mail: jenetzky@cure-net.de
E-Mail: homberg@cure-net.de
Website: www.cure-net.de
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8. February 2017 (CURE-Net)
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract developmentSci Rep. 2017 Feb 8;7:42170. doi: 10.1038/srep42170
Zhang R, Knapp M, Suzuki K, Kajioka D, Schmidt JM, Winkler J, Yilmaz Ö, Pleschka M, Cao J, Kockum CC, Barker G, Holmdahl G, Beaman G, Keene D, Woolf AS, Cervellione RM, Cheng W, Wilkins S, Gearhart JP, Sirchia F, Di Grazia M, Ebert AK, Rösch W, Ellinger J, Jenetzky E, Zwink N, Feitz WF, Marcelis C, Schumacher J, Martinón-Torres F, Hibberd ML, Khor CC, Heilmann-Heimbach S, Barth S, Boyadjiev SA, Brusco A, Ludwig M, Newman W, Nordenskjöld A, Yamada G, Odermatt B, Reutter H -
1. June 2015 (CURE-Net)
Sexual function in adult patients with classic bladder exstrophy: A multicenter studyJ Pediatr Urol. 2015 Jun;11(3):125.e1-6. doi: 10.1016/j.jpurol.2015.02.001. Epub 2015 Mar 12.Park W, Zwink N, Ebert A-K, Rösch W-H, Schmiedeke E, Stein R, Schmidt D, Noeker M, Jenetzky E, Reutter H.
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12. March 2015 (CURE-Net)
Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophyPLoS Genet. 2015 Mar 12;11(3):e1005024. doi: 10.1371/journal.pgen.1005024. eCollection 2015Draaken M, Knapp M, Pennimpede T, Ebert AK, Rösch W, Stein R, Utsch B, Hirsch K, Boemers TM, Mangold E, Heilmann S, Ludwig KU, Jenetzky E, Zwink N, Moebus S, Herrmann B, Mattheisen M, Nöthen M, Ludwig M.
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1. March 2015 (CURE-Net)
European consensus meeting of ARM-Net members concerning diagnosis and early management of newborns with anorectal malformationsTech. Coloproctol. 2015 Mar;19(3):181-5. doi: 10.1007/s10151-015-1267-8. Epub 2015 Jan 22Van der Steeg HJ, Schmiedeke E, Bagolan P, Broens P, Demirogullari B, Garcia-Vazquez A, Grasshoff-Derr S, Lacher M, Leva E, Makedonsky I, Sloots CE, Schwarzer N, Aminoff D, Schipper M, Jenetzky E, van Rooij IA, Giuliani S, Crétolle C, Holland Cunz S, Midrio P, de Blaauw I.
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28. August 2014 (CURE-Net)
Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalitiesBirth Defects Res A Clin Mol Teratol 2014; [Epub ahead of print]
Dworschak GC, Draaken M, Hilger AC, Schramm C, Bartels E, Schmiedeke E, Grasshoff-Derr S, Märzheuser S, Holland-Cunz S, Lacher M, Jenetzky E, Zwink N, Schmidt D, Nöthen MM, Ludwig M, Reutter H.
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8. August 2014 (CURE-Net)
Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomaliesBirth Defects Res A Clin Mol Teratol 2014; [Epub ahead of print]
Zeidler C, Woelfle J, Draaken M, Mughal SS, Große G, Hilger AC, Dworschak GC, Boemers TM, Jenetzky E, Zwink N, Lacher M, Schmidt D, Schmiedeke E, Grasshoff-Derr S, Märzheuser S, Holland-Cunz S, Schäfer M, Bartels E, Keppler K, Palta M, Leonhardt J, Kujath C, Rißmann A, Nöthen MM, Reutter H, Ludwig M.
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22. May 2014 (CURE-Net)
Genome-wide association study and mouse expression data identify a highly conserved 32kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladderHum Mol Genet 2014; [Epub ahead of print]
Reutter H, Draaken M, Pennimpede T, Wittler L, Brockschmidt FF, Ebert AK, Bartels E, Rösch W, Boemers TM, Hirsch K, Schmiedeke E, Meesters C, Becker T, Stein R, Utsch B, Mangold E, Nordenskjöld A, Barker G, Kockum CC, Zwink N, Holmdahl G, Läckgren G, Jenetzky E, Feitz WF, Marcelis C, Wijers CH, van Rooij IA, Gearhart JP, Herrmann BG, Ludwig M, Boyadjiev SA, Nöthen MM, Mattheisen M.
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20. May 2014 (CURE-Net)
No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformationsBirth Defects Res A Clin Mol Teratol 2014; 100(6):483-92
Wijers CH, de Blaauw I, Zwink N, Draaken M, van der Zanden LF, Brunner HG, Brooks AS, Hofstra RM, Sloots CE, Broens PM, Wijnen MH, Ludwig M, Jenetzky E, Reutter H, Marcelis CL, Roeleveld N,van Rooij IA
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25. April 2014 (CURE-Net)
Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical regionBirth Defects Res A Clin Mol Teratol 2014; 100(6):512-7. 23.
Draaken M, Baudisch F, Timmermann B, Kuhl H, Kerick M, Proske J, Wittler L, Pennimpede T, Ebert
AK, Rösch W, Stein R, Bartels E, von Lowtzow C, Boemers TM, Herms S, Gearhart JP, Lakshmanan
Y, Kockum CC, Holmdahl G, Läckgren G, Nordenskjöld A, Boyadjiev SA, Herrmann BG, Nöthen MM,
Ludwig M, Reutter H. -
5. December 2013 (CURE-Net)
Second study on the recurrence risk of isolated esophageal atresia with or without trachea-esophageal fistula among first-degree relatives: No evidence for increased risk of recurrence of EA/TEF or for malformations of the VATER/VACTERL association spectrumBirth Defects Res A Clin Mol Teratol 2013; 97(12): 786-91.
Choinitzki V, Zwink N, Bartels E, Baudisch F, Boemers TM, Hölscher A, Turial S, Bachour H, Heydweiller A, Kurz R, Bartmann P, Pauly M, Brokmeier U, Leutner A, Nöthen MM, Schumacher J, Jenetzky E, Reutter H.
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1. December 2013 (CURE-Net)
First results of a European multi-center registry of patients with anorectal malformationsJ Pediatr Surg 2013; 48(12): 2530-5.
De Blaauw I, Wijers CH, Schmiedeke E, Holland-Cunz S, Gamba P, Marcelis CL, Reutter H, Aminoff
D, Schipper M, Schwarzer N, Grasshoff-Derr S, Midrio P, Jenetzky E, van Rooij IA. -
1. December 2013 (CURE-Net)
First results of a European multi-center registry of patients with anorectal malformationsJ Pediatr Surg 2013; 48(12): 2530-5.
De Blaauw I, Wijers CH, Schmiedeke E, Holland-Cunz S, Gamba P, Marcelis CL, Reutter H, Aminoff
D, Schipper M, Schwarzer N, Grasshoff-Derr S, Midrio P, Jenetzky E, van Rooij IA. -
23. October 2013 (CURE-Net)
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL associationKidney Int 2014; 85(6): 1310-7
Saisawat P, Kohl S, Hilger AC, Hwang DY, Yung Gee H, Dworschak GC, Tasic V, Pennimpede T, Natarajan S, Sperry E, Matassa DS, Stajić N, Bogdanovic R, de Blaauw I, Marcelis CL, Wijers CH, Bartels E, Schmiedeke E, Schmidt D, Märzheuser S, Grasshoff-Derr S, Holland-Cunz S, Ludwig M, Nöthen MM, Draaken M, Brosens E, Heij H, Tibboel D, Herrmann BG, Solomon BD, de Klein A, van Rooij IA, Esposito F, Reutter HM, Hildebrandt F.
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2. August 2013 (CURE-Net)
Candidate gene association study implicates p63 in the etiology of nonsyndromic bladder-exstrophy-epispadias complexBirth Defects Res A Clin Mol Teratol 2013; 97(12): 759-63
Qi L, Wang M, Yagnik G, Mattheisen M, Gearhart JP, Lakshmanan Y, Ebert AK, Rösch W, Ludwig M, Draaken M, Reutter H, Boyadjiev SA.
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1. July 2013 (CURE-Net)
De novo Deletions of Chromosome 13q in Two Patients with Mild Anorectal Malformations as Part of VATER/VACTERL and VATER/VACTERL-like Association and Analysis of EFNB2 in Patients with Anorectal MalformationsAm J Med Genet A, in press
Dworschak GC, Draaken M, Marcelis C, de Blaauw I, Pfundt R, van Rooij IALM, Bartels E, Hilger A, Jenetzky E, Schmiedeke E, Grasshoff-Derr S, Schmidt D, Märzheuser S, Hosie S, Weih S Holland-Cunz S, Palta M, Leonhardt J, Schäfer M, Kujath C, Rißmann A, Nöthen MM, Zwink N, Ludwig M, Reutter H.
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9. May 2013 (CURE-Net)
CNV Analysis in Monozygotic Twin Pairs Discordant for Urorectal MalformationsTwin Res Hum Genet. 2013 May 9:1-6. [Epub ahead of print] PMID: 23659922
Baudisch F, Draaken M, Bartels E, Schmiedeke E, Bagci S, Bartmann P, Nöthen MM, Ludwig M, Reutter H.
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3. April 2013 (CURE-Net)
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL associationEur J Hum Genet. 2013 Apr 3. doi: 10.1038/ejhg.2013.58. [Epub ahead of print] PMID: 23549274
Hilger A, Schramm C, Pennimpede T, Wittler L, Dworschak GC, Bartels E, Engels H, Zink AM, Degenhardt F, Müller AM, Schmiedeke E, Grasshoff-Derr S, Märzheuser S, Hosie S, Holland-Cunz S, Wijers CH, Marcelis CL, van Rooij IA, Hildebrandt F, Herrmann BG, Nöthen MM, Ludwig M, Reutter H, Draaken M.
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1. January 2013 (CURE-Net)
Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12.Draaken M, Mughal SS, Pennimpede T, Wolter S, Wittler L, Ebert AK, Rösch W, Stein R, Bartels E, Schmidt D, Boemers TM, Schmiedeke E, Hoffmann P, Moebus S, Herrmann BG, Nöthen MM, Reutter H, Ludwig M. Birth Defects Res A Clin Mol Teratol Jan 2013;
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1. December 2012 (CURE-Net)
Involvement of the WNT and FGF signaling pathways in non-isolated anorectal malformations: sequencing analysis of WNT3A, WNT5A, WNT11, DACT1, FGF10, FGFR2 and the T gene.Draaken M, Prins W, Zeidler C, Hilger A, Mughal SS, Latus J, Boemers TM, Schmidt D, Schmiedeke E, Spychalski N, Bartels E, Nöthen MM, Reutter H, Ludwig M. Int J Mol Med 2012; 30(6): 1459-64.
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1. December 2012 (CURE-Net)
Clinical geneticists’ views of VACTERL/VATER association.Solomon BD, Bear KA, Kimonis V, de Klein A, Scott DA, Shaw-Smith C, Tibboel D, Reutter H, Giampietro PF. Am J Med Genet A 2012; 158A(12): 3087-100.
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27. November 2012 (CURE-Net)
Assisted reproductive techniques and the risk of the exstrophy-epispadias complex: a German case-control study.Zwink N, Jenetzky E, Hirsch K, Reifferscheid P, Schmiedeke E, Schmidt D, Reckin S, Obermayr F, Boemers TM, Stein R, Reutter H, Rösch WH, Brenner H, Ebert AK. J Urol. Nov 2012;
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1. November 2012 (CURE-Net)
Practice of dilatation after surgical correction in anorectal malformations (ARM).Jenetzky E, Reckin S, Schmiedeke E, Schmidt D, Schwarzer N, Grasshoff-Derr S, Zwink N, Bartels E, Rißmann A, Leonhardt J, Weih S, Obermayr F, Rädecke J, Palta M, Kosch F, Götz G, Hofbauer A, Schäfer M, Reutter H, Holland-Cunz S, Märzheuser S. Pediatr Surg Int. 2012; 28(11): 1095-9.
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1. November 2012 (CURE-Net)
Transition of adolescents with the exstrophy-epispadias complex to adult medicine: influence of long-term outcome results on managementEbert AK, Reutter H, Neissner C, Rösch W. Klin Padiatr 2012; 224(7): 455-60.
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1. October 2012 (CURE-Net)
VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis.Bartels E, Schulz AC, Mora NW, Pineda-Alvarez DE, Wijers CH, Marcelis CM, Stressig R, Ritgen J, Schmiedeke E, Mattheisen M, Draaken M, Hoffmann P, Hilger AC, Dworschak GC, Baudisch F, Ludwig M, Bagci S, Müller A, Gembruch U, Geipel A, Berg C, Bartmann P, Nöthen MM, van Rooij IA, Solomon BD, Reutter HM. Clin Dysmorphol 2012; 21(4): 191-5.
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1. October 2012 (CURE-Net)
Testicular tumors in patients with exstrophy-epispadias complex.Ebert AK, Kliesch S, Neissner C, Reutter H, Rösch WH.J Urol 2012; 188(4): 1300-5.
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1. September 2012 (CURE-Net)
Murine expression and mutation analyses of the prostate androgen-regulated mucin-like protein 1 (Parm1) gene, a candidate for human epispadias.Wittler L, Hilger A, Proske J, Pennimpede T, Draaken M, Ebert AK, Rösch W, Stein R, Nöthen MM, Reutter H, Ludwig M. Gene 2012; 506(2): 392-5.
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1. September 2012 (CURE-Net)
Assisted reproductive techniques and the risk of anorectal malformations: a German case-control study.Zwink N , Jenetzky E, Schmiedeke E, Schmidt D, Märzheuser S, Grasshoff-Derr S, Holland-Cunz S, Weih S, Hosie S, Reifferscheid P, Ameis H, Kujath C, Rißmann A, Obermayr F, Schwarzer N, Bartels E, Reutter H, Brenner H, CURE-Net Consortium. Orphanet J Rare Dis. 201 2; 7: 65.
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1. August 2012 (CURE-Net)
Postoperative complications in adults with anorectal malformation: a need for transition. German Network for Congenital Uro-REctal Malformations (CURE-Net).Schmidt D, Jenetzky E, Zwink N, Schmiedeke E, Maerzheuser S. Pediatr Surg Int. 2012; 28(8): 793-5.
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1. August 2012 (CURE-Net)
Sexual function in adults with anorectal malformation: psychosocial adaptation. German Network for Congenital Uro-REctal Malformations (CURE-Net).Schmidt D, Winter S, Jenetzky E, Zwink N, Schmiedeke E, Maerzheuser S. Pediatr Surg Int. 2012; 28(8): 789-92.
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1. August 2012 (CURE-Net)
Unexpected results of a nationwide, treatment-independent assessment of fecal incontinence in patients with anorectal anomalies.Schmiedeke E, Zwink N, Schwarzer N, Bartels E, Schmidt D, Grasshoff-Derr S, Holland-Cunz S, Hosie S, Jablonka K, Maerzheuser S, Reutter H, Lorenz C, Jenetzky E. Pediatr Surg Int. 2012; 28(8): 825-30.
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1. July 2012 (CURE-Net)
Familial occurrence of the VATER/VACTERL association.Hilger A, Schramm C, Draaken M, Mughal SS, Dworschak G, Bartels E, Hoffmann P, Nöthen MM, Reutter H, Ludwig M. Pediatr Surg Int 2012; 28(7): 725-9.
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1. July 2012 (CURE-Net)
Inheritance of the VATER/VACTERL association.Bartels E, Jenetzky E, Solomon BD, Ludwig M, Schmiedeke E, Grasshoff-Derr S, Schmidt D, Märzheuser S, Hosie S, Weih S, Holland-Cunz S, Palta M, Leonhardt J, Schäfer M, Kujath C, Rißmann A, Nöthen MM, Reutter H, Zwink N. Pediatr Surg Int. 2012; 28(7): 681-5.
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1. November 2011 (CURE-Net)
Phenotype Severity in the Bladder Exstrophy-Epispadias Complex: Analysis of Genetic and Nongenetic Contributing Factors in 441 Families from North America and Europe.Reutter H, Boyadjiev SA, Gambhir L, Ebert AK, Rösch WH, Stein R, Schröder A, Boemers TM, Bartels E, Vogt H, Utsch B, Müller M, Detlefsen B, Zwink N, Rogenhofer S, Gobet R, Beckers GM, Bökenkamp A, Kajbafzadeh AM, Jaureguizar E, Draaken M, Lakshmanan Y, Gearhart JP, Ludwig M, Nöthen MM, Jenetzky E. J Pediatr. 2011; 159(5): 825-31.
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1. October 2011 (CURE-Net)
Pregnancy management in women within the bladder-exstrophy-epispadias complex (BEEC) after continent urinary diversion.Ebert AK, Falkert A, Hofstädter A, Reutter H, Rösch WH. Arch Gynecol Obstet. 2011; 284(4): 1043-6.
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1. October 2011 (CURE-Net)
German Network for Congenital Uro-REctal Malformations: first evaluation and interpretation of postoperative urological complications in anorectal malformations.Maerzheuser S, Jenetzky E, Zwink N, Reutter H, Bartels E, Grasshoff-Derr S, Holland-Cunz S, Hosie S, Schmiedeke E, Schwarzer N, Spychalski N, Goetz G, Schmidt D. Pediatr Surg Int. 2011; 27(10): 1085-9.
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1. October 2011 (CURE-Net)
Medical predictors of psychological anxieties in VATER patients.Noeker M, Schmitz M, Schmiedeke E, Zwink N, Reutter H, Schmidt D, Jenetzky E. Pediatr Surg Int. 2011; 27(10): 1079-83.
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1. October 2011 (CURE-Net)
A successful treatment strategy in infants and adolescents with anorectal malformation and incontinence with combined hydrocolonic ultrasound and bowel management.Grasshoff-Derr S, Backhaus K, Hubert D, Meyer T. Pediatr Surg Int. 2011; 27(10): 1099-103.