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Marian Humphries

Dr. Marian Humphries works as an scientific investigator at the resarch group Ocular Genetics at the Trinity Colleg Dublin, Ireland.


CV of Marian Humphries [pdf]

Scientifc Interest

My research interests are in the molecular genetics of degenerative diseases of the retina and in the use of animal models in probing the molecular pathology of such diseases.


  • Irish Society of Human Genetics,
  • American Society of Human Genetics,
  • Association for Research in Vision and Ophthalmology,
  • European Vision Institute,
  • Trinity College Neurosciences Institute (TCIN),
  • All-Ireland Retinal Researchers Network,
  • Irish Network of Neuronal Stem-cell Investigators,
  • Panel Member of Scientific and Medical Advisory Board Meeting of Retina International 2007

Key Publications

  1. McWilliam P, Farrar GJ, Kenna, P, Bradley DG, Humphries MM, Sharp EM, McConnell DJ, Lawler M, Sheils D, Stephens K, Daiger SP and Humphries P.
    Autosomal dominant retinitis pigmentosa: localization of an adRP gene to the long arm of chromosome 3.
    Genomics, 5, 612-619, 1989.
  2. Farrar GJ, Kenna P, Jordan S, Kumar-Singh R, Humphries MM, Sharp EM, Sheils D and Humphries P.
    A 3 base-pair deletion in the peripherin gene in one form of retinitis pigmentosa.
    Nature, 354, 478-480, 1991.
  3. Jordan SA, Farrar GJ, Kenna P, Humphries MM, Sheils D, Kumar-Singh R, Sharp EM, Soriano N, Ayuso C, Benitez J and Humphries P.
    Localisation of an autosomal dominant retinitis pigmentosa gene to chromosome 7q.
    Nature Genetics, 4, 54-57, 1993.
  4. Humphries MM, Rancourt D, Farrar GJ, Kenna P, Hazel M, Bush RA, Sieving PA, Sheils DM, McNally N, Creighton P, Erven A, Boros A, Gulya K, Capecchi MR and Humphries P.
    Retinopathy induced in mice by targeted disruption of the rhodopsin gene.
    Nature Genetics, 15, 216-219, 1997.
  5. Hobson A, Humphries MM, Donneally MA, Cotter T, Tuohy G, Kenna P, Farrar GJ and Humphries P.
    Apoptotic photoreceptor death in the rhodopsin knockout mouse in the presence and absence of c-fos.
    Exp Eye Res, 71, 247-254, 2000.
  6. Humphries MM, Kiang S, McNally N, Donovan M, Sieving PA, Bush RA, Machida S, Cotter T, Hobson A, Farrar GJ, Humphries P and Kenna P.
    Comparative structural and functional analysis of photoreceptor neurones of Rho-/- mouse reveal increased survival on C57BL/6J in comparison to 129Sv genetic background.
    Vis Neurosci, 18, 437-443, 2001.
  7. Kennan A, Aherne A, Palfi A, Humphries MM, Stitt A, Simpson D, Demtroder K, Orntoft T. Ayuso C, Kenna PF, Farrar GJ and Humphries P.
    Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho-\- mice.
    Human Mol Genet, 2002 11:5, 547-558.
  8. Aherne A, Kennan A, Kenna PF, McNally N, Lloyd DG, Alberts IL, Kaing A-S, Humphries MM, Ayuso C, Engel PC, Gu JJ, Mitchell BS, Farrar GJ and Humphries P.
    On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa.
    Hum Mol Genet, 2004, 13:6, 641-650.
  9. O’Reilly M, Palfi A,, Chadderton N, Millington-Ward S, Ader M, Cronin T, Tuohy T, Auricchio A, Hildingr M, Tivnan A, McNally M, Humphries MM, Kiang A-S, Humphries P, Kenna PF and Farrar GJ.
    RNAi-mediated suppression and replacement of human rhodopsin in vivo.
    Am J of Human Genet, 2007, 81(1), 127-35.
  10. Tam LC, Kiang AS, Kennan A, Kenna PF, Chadderton N, Ader M, Palfi A, Aherne A, Campbell M, Reynolds A, McKee A, Humphries MM, Farrar GJ, Humphries P.
    Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10).
    Hum Mol Genet, 2008, Apr 4 [Epub ahead of print].

Research Group

Ocular Genetics


Trinity College Dublin

Lincoln Place Gate
Dublin 2
D2 Dublin

Phone: +353-1- 8962484
Fax: +353-1-8963848

Email: mhumphri[at]

Research Groups