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About Sickkids
About SickKids

Johanna Rommens, PhD

Research Institute
Senior Scientist Emeritus
Genetics & Genome Biology

University of Toronto
Department of Molecular Genetics

Phone: 416-813-7095
Fax: 416-813-4931
Email: jrommens@sickkids.ca
Alternate Contact: Johanna Rommens
Alternate Email: j.rommens@utoronto.ca

Research Interests

  • Human genetics
  • Modification of genetic disease phenotypes
  • Ribosomal deficiency
  • Cancer predisposition

Current Research Activities

  • Diseases of the exocrine pancreas
  • Shwachman-Diamond Syndrome (SDS)
  • Cystic Fibrosis (CF)
  • Mouse models of SDS and CF
  • Exocrine pancreatic development


Tourlakis ME, Zhang S, Ball HL, Gandhi R, Liu H, Zhong J, Yuan JS, Guidos CJ, Durie PR, Rommens JM.(2015) In Vivo senescence in the Sbds-deficient murine pancreas: cell-type specific consequences of translation insufficiency. PLoS Genetics 11(6) e1005288. PMID: 26057580.

Sosnay PR, Siklosi KR, Van Goor F, Kaniecki K, Yu H, Sharma N, Romalho AS, Amaral MD, Dorfman R, Zielenski J, Masica DL, Karchin R, Millen L, Thomas PJ, Patrinos GP, Corey M, Lewis MH, Rommens JM, Castellani C, Penland CM, Cutting GR. (2013) Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nature Genet. 45: 1160-1167. PMID: 23974870.

Tourlakis ME, Zhong J, Gandhi R, Zhang S, Chen L, Durie PR, Rommens JM. (2012) Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules. Gastroenterology 143: 481-492. PMID: 22510201.

Sun L*, Rommens JM*, Corvol H, Li W, Li X, Chiang T, Lin F, Dorfman R, Busson P-F, Parekh RV, Zelenika D, Blackman S, Corey M, Doshi V, Henderson L, Naughton K, O’Neal W, Pace RG, Stonebraker JR, Wood SD, Wright FA, Zielenski J, Cement A, Drumm ML, Boëlle P-Y, Cutting GR, Knowles MR, Durie PR, Strug LJ. (2012) Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis. Nature Genet 44: 562-569. PMID: 22466613.

Dror Y, Donadieu J, Koglmeier J, Dodge J, Toiviainen-Salo S, Makitie O, Kerr E, Zeidler C, Shimamura A, Shah N, Cipolli M, Kuijpers T, Durie P, Rommens J, Siderius L, Liu JM. (2011) Draft concensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. Ann NY Acad Sci, 1242: 40-55. PMID: 22191555.

Kerr E, Ellis L, Dupuis A, Rommens JM, Durie PR. (2010) The behavioual phenotype of school-age children with Shwachman-Diamond syndrome indicates neurocognitive dysfunction with loss of SBDS. J Pediatr, 156: 433-8. PMID: 19906387.

More publications on PubMed

Intellectual Property

  • Chromosome 13-Linked Breast Cancer Susceptibility Gene (licensed)
  • Chromosome 1-linked Prostate Cancer Suscepibility Gene and Multi-site Tumour Suppressor (licensed)
  • Cystic Fibrosis Gene and Mutations (US 6001588, US 5981178, US 5776677)
  • Stable Propagation of Modified Full Length Cystic Fibrosis Transmembrane Conductance Regulator Protein cDNA in Heterologous Systems (US 5863770, US 6063913)
  • Genetic Sequences and Proteins Related to Alzheimer's Disease (licensed)
  • Diagnosis of Shwachman-Diamond Syndrome (US7785777)