Faculty A-Z

Kathleen Hodgkinson

Professor of Medicine. B.Sc. M.Sc. Ph.D.

Clinical Epidemiology in Community Health and Humanities. Cross appointed to BioMedical Sciences and Eastern Health

(709) 864-6694


Craig L. Dobbin Genetics Research Centre, Room: M4M137 Faculty of Medicine, Memorial University of Newfoundland St. John's, NL Canada A1B 3V6

Top Canadian Honour


What brought me to MUN? What keeps me at MUN?

The strength of the founder population for genetic research was a prime reason for coming to Newfoundland and to Memorial. The population is also a major reason for staying. The people are generous, stalwart, intelligent, dependable helpful and kind and I think I have learned more from them in contexts far removed from genetics than I thought was possible. The Province has a rich history and heritage that can be seen and felt and lived on a daily basis. The shared sense of being part of the Newfoundland history is powerful.

The geography: the grandeur of the geology, flora and fauna make this one of the most beautiful places I have ever lived. The friendliness, support and mentorship of colleagues, within my own discipline and faculty but also from the wider University body have been instrumental in making the experience positive.

Research Interests: All inherited cardiomyopathies, particularly arrhythmogenic right ventricular cardiomyopathy (ARVC)
Education: Doctor of Philosophy – The clinical and genetic epidemiology of Arrhythmogenic Right Ventricular Cardiomyopathy in Newfoundland Memorial University, St. John’s, Newfoundland. 2000-present

Master of Science - Genetic Counselling; June 1991, McGill University, Montreal, Quebec, Canada.

Bachelor of Science - Genetics and Cell Biology; June 1982, awarded a First Class honours degree. Top degree in the school of zoology. Manchester University, Oxford Road, Greater Manchester, England.
St. Mary's Hospital, Manchester, UK
Churchill Hospital Department of Genetics, Oxford, UK
Toronto General Hospital, Ontario, Canada
Queen Street Mental Health Centre, Toronto, Ontario, Canada
Health Sciences Centre, St. John's, Newfoundland

Peer Reviewed Publications
  1. Harris R, Elles R, Craufurd D, Dodge A, Ivinson A, Hodgkinson, K.A., Mountford R, Schwartz M, Strachan T, Read A. Molecular genetics in the National Health Service in Britain. Journal of Medical Genetics 1989 Apr; 26(4):219-225.
  2. Elles RG, Read AP, Hodgkinson, K.A., Watters A, Harris R. Recombination or heterogeneity: is there a second locus for adult polycystic kidney disease? Journal of Medical Genetics 1990 Jul;27(7):413-417.
  3. Hodgkinson, K.A., Kerzin-Storrar L, Watters EA, Harris R. Adult polycystic kidney disease: knowledge, experience, and attitudes to prenatal diagnosis. Journal of Medical Genetics 1990 Sep;27(9):552-558.
  4. Chitayat D, Meunier CM, Hodgkinson, K.A., Silver K, Flanders M, Anderson IJ, Little JM, Whiteman DA, Carpenter S. Mucolipidosis type IV: clinical manifestations and natural history. American Journal of Medical Genetics 1991 Dec 1;41(3):313-318.
  5. Chitayat D, Hodgkinson, K.A., Blaichman S, Chen ME, Watters GV, Khalife S, Hall JG. Syndrome of mental retardation and distal arthrogryposis in sibs. American Journal of Medical Genetics 1991 Oct 1;41(1):49-51.
  6. Chitayat D, Meunier CM, Hodgkinson, K.A., Azouz ME. Robin sequence with facial and digital anomalies in two half-brothers by the same mother. American Journal of Medical Genetics 1991 Aug 1;40(2):167-172.
  7. Chitayat D, Hodgkinson, K.A., Ginsburg O, Dimmick J, Watters GV. King syndrome: a genetically heterogenous phenotype due to congenital myopathies. American Journal of Medical Genetics 1992 Aug 1;43(6):954-956.
  8. Chitayat D, Hodgkinson, K.A., Chen MF, Haber GD, Nakishima S, Sando I. Branchio-oto-renal syndrome: further delineation of an underdiagnosed syndrome. American Journal of Medical Genetics 1992 Aug 1;43(6):970-975.
  9. Chitayat D, Hodgkinson, K.A., Azouz EM. Intrafamilial variability in cleidocranial dysplasia: a three generation family. American Journal of Medical Genetics 1992 Feb 1;42(3):298-303.
  10. Chitayat D, Meunier C, Hodgkinson, K.A., Robb L, Azouz M. Acrania: a manifestation of the Adams-Oliver syndrome. American Journal of Medical Genetics 1992 Nov 15;44(5):562-566.
  11. Elles RG, Hodgkinson, K.A., Mallick NP, O'Donoghue DJ, Read AP, Rimmer S, Watters EA, Harris R. Diagnosis of adult polycystic kidney disease by genetic markers and ultrasonographic imaging in a voluntary family register. Journal of Medical Genetics 1994 Feb;31(2):115-120.
  12. Chitayat D, Moore L, Del Bigio MR, MacGregor D, Ben-Zeev B, Hodgkinson, K.A., Deck J, Stothers T, Ritchie S, Toi A. Familial Dandy-Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis: prenatal diagnosis and postnatal outcome in brothers. A new syndrome? American Journal of Medical Genetics 1994 Oct 1;52(4):406-415.
  13. Chitayat D, Hodgkinson, K.A., Luke A, Winsor E, Rose T, Kalousek D. Prenatal diagnosis and fetopathological findings in five fetuses with trisomy 9. American Journal of Medical Genetics 1995 Apr 10;56(3):247-251.
  14. Bassett AS, Bury A, Hodgkinson, K.A., Honer WG. Reproductive fitness in familial schizophrenia. Schizophrenia Research 1996 Sep 18;21(3):151-160.
  15. Brzustowicz LM, Honer WG, Chow EW, Hogan J, Hodgkinson, K.A., Bassett AS. Use of a quantitative trait to map a locus associated with severity of positive symptoms in familial schizophrenia to chromosome 6p. American Journal of Human Genetics 1997 Dec;61(6):1388-1396.
  16. Bassett AS, Hodgkinson, K.A., Chow EW, Correia S, Scutt LE, Weksberg R. 22q11 deletion syndrome in adults with schizophrenia. American Journal of Medical Genetics 1998 Jul 10;81(4):328-337.
  17. Brzustowicz LM, Honer WG, Chow EW, Little D, Hogan J, Hodgkinson, K.A., Bassett AS. Linkage of familial schizophrenia to chromosome 13q32. American Journal of Human Genetics 1999 Oct;65(4):1096-1103.
  18. Brzustowicz LM, Hodgkinson, K.A., Chow EW, Honer WG, Bassett AS. Location of a major susceptibility locus for familial schizophrenia on chromosome 1q21-q22. Science 2000 Apr 28;288(5466):678-682.
  19. Hodgkinson, K.A., Murphy J, O'Neill S, Brzustowicz L, Bassett AS. Genetic counselling for schizophrenia in the era of molecular genetics. Canadian Journal of Psychiatry 2001 Mar;46(2):123-130.
  20. Brzustowicz LM, Hayter JE, Hodgkinson, K.A., Chow EW, Bassett AS. Fine mapping of the schizophrenia susceptibility locus on chromosome 1q22. Hum Hered. 2002;54(4):199-209.
  21. Brzustowicz LM, Simone J, Mohseni P, Hayter JE, Hodgkinson, K.A., Chow EW, Bassett AS. Linkage disequilibrium mapping of schizophrenia susceptibility to the CAPON region of chromosome 1q22. American Journal of Human Genetics 2004 May;74(5):1057-1063.
  22. Greenwood CM, Husted J, Bomba MD, Hodgkinson, K.A., Bassett AS. Elevated rates of schizophrenia in a familial sample with mental illness and intellectual disability. Journal of Intellectual Disability Research 2004 Sep;48(Pt 6):531-539.
  23. Hodgkinson, K.A., Parfrey PS, Bassett AS, Kupprion C, Drenckhahn J, Norman MW, Thierfelder L, Stuckless SN, Dicks EL, McKenna WJ, Connors SP. The impact of implantable cardioverter-defibrillator therapy on survival in autosomal-dominant arrhythmogenic right ventricular cardiomyopathy (ARVD5). Journal of the American College of Cardiology 2005 Feb 1;45(3):400-408.
  24. Editorial on this paper: Implantable Cardioverter Defibrillator therapy in arrhythmogenic right ventricular cardiomyopathy: A role for genotyping in decision making? Thomas Whichter, Gunter Breithardt Journal of the American College of Cardiology 2005 45(3) 409-411Pullman D, Hodgkinson, K.A. Genetic knowledge and moral responsibility: ambiguity at the interface of genetic research and clinical practice. Clinical Genetics 2006 Mar;69(3):199-203.
  25. Merner ND*, Hodgkinson, K.A.*, Haywood AF, Connors S, French VM, Drenckhahn JD, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, Gallagher B, Morris-Larkin L, Bassett AS, Parfrey PS, Young TL. Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. American Journal of Human Genetics 2008 Apr;82(4):809-821. doi: 10.1016/j.ajhg.2008.01.010.
  26. (*contributed equally to the manuscript)
  27. Samuels ME, Orr A, Guernsey DL, Dooley K, Riddell C, Hodgkinson, K.A., Ludman M, Pullman D. Is gene discovery research or diagnosis? Genetics in Medicine 2008 Jun;10(6):385-390. doi: 10.1097/GIM.0b013e3181770172.
  28. Hodgkinson, K.A., Dicks E, Connors S, Young TL, Parfrey P, Pullman D. Translation of research discoveries to clinical care in arrhythmogenic right ventricular cardiomyopathy in Newfoundland and Labrador: lessons for health policy in genetic disease. Genetics in Medicine 2009 Dec;11(12):859-865. doi: 10.1097/GIM.0b013e3181c20bb3.
  29. Editorial on this paper: Lessons from Arrhythmogenic right ventricular cardiomyopathy research: Taylor M. Genet Med. Dec, 11 (12): 850-1 2009
  30. Mahoney K, Moore SJ, Buckley D, Alam M, Parfrey P, Penney S, Merner N, Hodgkinson, K.A., Young TL. Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A. Seizure 2009 Sep;18(7):492-497. doi: 10.1016/j.seizure.2009.04.009.
  31. Bassett AS, Chow EW, Husted J, Hodgkinson, K.A., Oechslin E, Harris L, Silversides C. Premature death in adults with 22q11.2 deletion syndrome. Journal of Medical Genetics 2009 May;46(5):324-330. doi: 10.1136/jmg.2008.063800.
  32. Hodgkinson, K.A., Pullman D. Duty to warn and genetic disease. Canadian Journal of Cardiovascular Nursing 2010;20(1):12-5.
  33. Gollob MH, Blier L, Brugada R, Champagne J, Chauhan V, Connors S, Gardner M, Green MS, Gow R, Hamilton R, Harris L, Healey JS, Hodgkinson, K.A., Honeywell C, Kantoch M, Kirsh J, Krahn A, Mullen M, Parkash R, Redfearn D, Rutberg J, Sanatani S, Woo A. Recommendations for the use of genetic testing in the clinical evaluation of inherited cardiac arrhythmias associated with sudden cardiac death: Canadian Cardiovascular Society/Canadian Heart Rhythm Society joint position paper. Canadian Journal of Cardiology 2011 Mar-Apr;27(2):232-245. doi: 10.1016/j.cjca.2010.12.078.
  34. Pullman D, Etchegary H, Gallagher K, Hodgkinson, K.A., Keough M, Morgan D, Street C. Personal privacy, public benefits, and biobanks: a conjoint analysis of policy priorities and public perceptions. Genetics in Medicine 2012 Feb;14(2):229-235. doi: 10.1038/gim.0b013e31822e578f.
  35. Etchegary H, Dicks E, Hodgkinson, K.A., Pullman D, Green J, Parfrey P. Public attitudes about genetic testing in the newborn period. Journal of Obstetric, Gynecologic, and Neonatal Nursing 2012 Mar;41(2):191-200. doi: 10.1111/j.1552-6909.2012.01341.x.
  36. Etchegary H, Dicks E, Green J, Hodgkinson, K.A., Pullman D, Parfrey P. Interest in newborn genetic testing: a survey of prospective parents and the general public. Genetic Testing and Molecular Biomarkers 2012 May;16(5):353-358. doi: 10.1089/gtmb.2011.0221.
  37. Bourassa CV, Meijer IA, Merner ND, Grewal KK, Stefanelli MG, Hodgkinson, K.A., Ives EJ, Pryse-Phillips W, Jog M, Boycott K, Grimes DA, Goobie S, Leckey R, Dion PA, Rouleau GA. VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. American Journal of Human Genetics 2012 Sep 7;91(3):548-552. doi: 10.1016/j.ajhg.2012.07.018.
  38. Hodgkinson, K.A., Connors SP, Merner N, Haywood A, Young TL, McKenna WJ, Gallagher B, Curtis F, Bassett AS, Parfrey PS. The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43. Clinical Genetics 2013 Apr;83(4):321-331. doi: 10.1111/j.1399-0004.2012.01919.x.
  39. Kosseim P, Pullman D, Perrot-Daley A, Hodgkinson, K.A., Street C, Rahman P. Privacy protection and public goods: building a genetic database for health research in Newfoundland and Labrador. Journal of the American Medical Informatics Association 2013 Jan 1;20(1):38-43. doi: 10.1136/amiajnl-2012-001009.
  40. Haywood AF*, Merner ND*, Hodgkinson, K.A.*, Houston J, Syrris P, Booth V, Connors S, Pantazis A, Quarta G, Elliott P, McKenna W, Young TL. Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada. European Heart Journal 2013 Apr;34(13):1002-1011. doi: 10.1093/eurheartj/ehs383. (*contributed equally to the manuscript)
  41. Abdelfatah N, McComiskey DA, Doucette L, Griffin A, Moore SJ, Negrijn C, Hodgkinson, K.A., King JJ, Larijani M, Houston J, Stanton SG, Young TL. Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL. European Journal of Human Genetics 2013 Oct;21(10):1112-1119. doi: 10.1038/ejhg.2013.5.
  42. Etchegary H, Pullman D, Simmonds C, Young TL, Hodgkinson, K.A. 'It had to be done': genetic testing decisions for arrhythmogenic right ventricular cardiomyopathy. Clinical Genetics 2014 Sep 29;1-8. doi: 10.1111/cge.12513. [Epub ahead of print]
  43. Costain G, Esplen MJ, Toner B, Hodgkinson, K.A., Bassett AS. Evaluating genetic counseling for family members of individuals with schizophrenia in the molecular age. Schizophrenia Bulletin 2014 Jan;40(1):88-99. doi: 10.1093/schbul/sbs124.
  44. Costain G, Esplen MJ, Toner B, Scherer SW, Meschino WS, Hodgkinson, K.A., Bassett AS. Evaluating genetic counseling for individuals with schizophrenia in the molecular age. Schizophrenia Bulletin 2014 Jan;40(1):78-87. doi: 10.1093/schbul/sbs138.
  45. Milting H, Klauke B, Christensen AH, Müsebeck J, Walhorn V, Grannemann S, Münnich T, Šaric T, Rasmussen TB, Jensen HK, Mogensen J, Baecker C, Romaker E, Laser KT, zu Knyphausen E, Kassner A, Gummert J, Judge DP, Connors S, Hodgkinson, K.A., Young TL, van der Zwaag PA, van Tintelen JP, Anselmetti D. The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus. European Heart Journal 2015 Apr 7;36(14):872-881. doi: 10.1093/eurheartj/ehu077.
  46. Etchegary H, Enright G, Pullman D, Young TL, Audas R, Hodgkinson, K.A. Perceived economic burden associated with an inherited cardiac condition: a qualitative inquiry with families affected by arrhythmogenic right ventricular cardiomyopathy caused by a TMEM43 p.S358L disease causing mutation. Genetics in Medicine, 2015, in press (accepted August 2015: GIM-D-15-00117R1)

Refereed Manuscripts (in revision)
  1. Hodgkinson, K.A., Howes AJ, Boland PW, Shen XS, Stuckless SN, Young TL, Curtis F, Parfrey PS, Connors SP. The long-term clinical outcome of arrhythmogenic right ventricular cardiomyopathy subjects with a p.S358L mutation in TMEM43 after implantable cardioverter defibrillator (ICD) therapy for both primary and secondary prophylaxis. Circulation, Electrophysiology and Arrhythmia 2015, in revision (CIRCULATIONAHA/2015/017825)
  2. Pullman D, Hodgkinson, K.A. The curious case of the disappearing defibrillator. American Journal of Bioethics, 2015, in revision Sept 2015