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Peter Humphries

Peter Humphries is pProfessor of Medical Molecular Genetics at Trinity College Dublin, Ireland and head of Smurfit Institute of Genetics, TCD. 


CV of Peter Humphries [pdf]

Scientifc Interest

  • Visual neruoscience and genetics.


Current and recent:

  • Retina International (IRPA)-Scientific and Medical Advisory Board;
  • Foundation Fighting Blindness (USA)-Focus Group on Genetics and Genetic Technology;
  • Dystrophic Epidermolysis Bullosa Research Association (DEBRA)-International Medical and Scientific Advisory Board; Member, Alcon Research Institute (USA);
  • The Wellcome Trust-Neurosciences Panel,
  • Vision Research Working Party,
  • Genetics Advisory Group;
  • Communicating Editor, Human Mutation;
  • Editorial Board, Human Molecular Genetics;
  • The Human Genome Organisation (HUGO)- Founder Irish Member;
  • Irish Society of Human Genetics (President),
  • American Society of Human Genetics,
  • Association for Research in Vision and Ophthalmology,
  • International Brain Barriers Society,
  • Fighting Blindness Ireland Medical and Scientific Advisory Board,
  • Fellow of European Molecular Biology Organization;
  • AMD (Age-Related Macular Dystrophy) Alliance International Scientific Advisory Panel.
  • Medical Research Council (UK) College of Experts. Member,
  • College of Reviewers for the Canada Research Chairs Programme,
  • European Vision Institute,
  • Honorary Member Association of Physicians of Great Britain and Ireland.

Research Group

Ocular Genetics


Trinity College Dublin

Lincoln Place Gate
Dublin 2
D2 Dublin

Phone: +353-1-8961547
Fax: +353-1-8963848

Email: pete.humphries[at]

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. Humphries P, Kenna P and Farrar GJ.
    On the molecular genetics of retinitis pigmentosa.
    Science, 256, 804-808, 1992.
  4. 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.
  5. 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,
  6. Capecchi MR and Humphries P.
    Retinopathy induced in mice by targeted disruption of the rhodopsin gene.
    Nature Genetics, 15, 216-219, 1997.
  7. Farrar GJ, Kenna P and Humphries P.
    Molecular genetics of Retinitis Pigmentosa: mutation independent approaches to therapy.
    EMBO J, 2002, 21:5, 857-864.
  8. 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.
  9. 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.
  10. 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.
  11. 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 Groups