School of Medicine

Dr Edward Tobias

Dr Edward S Tobias
  • Clinical Senior Lecturer (Clinical Specialties)

telephone: 01412010365
email: Edward.Tobias@glasgow.ac.uk


Qualifications: BSc (1st class Hons), MBChB (Commendation), MRCP, PhD (Molec. Biol.), FRCP, FHEA

Dr Tobias’ research group aims to improve the understanding of a variety of medical genetic disorders. The group is closely linked with the West of Scotland Regional Genetics service with several projects arising from the molecular investigation of patients with clinical genetic conditions that range from single gene disorders to complex diseases. The group has strong interests in the genetic basis of long QT syndrome (in collaboration with the FANS network and Generation Scotland) and congenital Mullerian abnormalities, in addition to the role of tumour suppressor genes in human cancer. Dr Tobias has multiple collaborators within and outside the UK.  Please note that the Publications and Grants pages are currently being updated.

Dr Tobias previously gained an MRC Training Fellowship and won a prestigious GlaxoWellcome/GlaxoSmithKline Senior Clinical Fellowship.  He previously discovered a new cancer gene (submitted to the international Genbank database and leading to papers in Oncogene and in Nature Genetics). Recent molecular genetic work identifying a new candidate tumour suppressor gene, was graded "Excellent/clearly outstanding" by the Scientific Committee of the Chief Scientist Office.  In addition, very recent work in elucidating the parent-of-origin effect in SDHD-related tumourigenesis led to the award of a prize to Dr Tobias from the British Society of Human Genetics (September 2011) and to a paper now in press in the Journal of Clinical Endocrinology and Metabolism. Two other projects have led to the award of prizes.

His own research grants total £738,166.

Jump to: 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2005 | 2003 | 2002 | 2001 | 2000 | 1999 | 1997 | 1994
Number of items: 39.

2012

Ramus, S.J. et al. (2012) Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers. Human Mutation, 33 (4). pp. 690-702. ISSN 1059-7794 (doi:10.1002/humu.22025)

Mavaddat, N. et al. (2012) Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiology Biomarkers & Prevention, 21 (1). pp. 134-147. ISSN 1055-9965 (doi:10.1158/1055-9965.EPI-11-0775)

Yeap, P.M. et al. (2012) Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect. Journal of Clinical Endocrinology and Metabolism, 96 (12). E2009-E2013. ISSN 0021-972X (doi:10.1210/jc.2011-1244)

2011

Antoniou, A.C. et al. (2011) Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. Human Molecular Genetics, 20 (16). pp. 3304-3321. ISSN 0964-6906 (doi:10.1093/hmg/ddr226)

Tobias, E.S., Connor, J.M. , and Ferguson-Smith, M. (2011) Essential Medical Genetics (6th edition). Series: Essentials . Wiley-Blackwell, Chichester, U.K.. ISBN 9781405169745

Cox, D. G. et al. (2011) Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers. Human Molecular Genetics, 20 (23). pp. 4732-4747. ISSN 0964-6906 (doi:10.1093/hmg/ddr388)

Freeman, D. et al. (2011) Incident venous thromboembolic events in the Prospective Study of Pravastatin in the Elderly at Risk (PROSPER). BMC Geriatrics, 11 (8). ISSN 1471-2318 (doi:10.1186/1471-2318-11-8)

Im, K.M. et al. (2011) Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers. Human Genetics, 130 (5). pp. 685-699. ISSN 0340-6717 (doi:10.1007/s00439-011-1003-z)

Lang, J., Tobias, E.S. , and MacKie, R. (2011) Preliminary evidence for involvement of the tumour suppressor gene CHD5 in a family with cutaneous melanoma. British Journal of Dermatology, 164 (5). pp. 1010-1016. ISSN 0007-0963 (doi:10.1111/j.1365-2133.2011.10223.x)

Mulligan, A.M. et al. (2011) Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2. Breast cancer research : BCR, 13 (6). R110. ISSN 1465-542X (doi:10.1186/bcr3052)

Rebbeck, T. R. et al. (2011) Modification of BRCA1-associated breast and ovarian cancer risk by BRCA1-interacting genes. Cancer Research, 71 (17). pp. 5792-5805. ISSN 0008-5472 (doi:10.1158/0008-5472.CAN-11-0773)

2010

Antoniou, A.C. et al. (2010) A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population. Nature Genetics, 42 (10). pp. 885-892. ISSN 1061-4036 (doi:10.1038/ng.669)

Vickers, A. et al. (2010) The rs10993994 risk allele for prostate cancer results in clinically relevant changes in microseminoprotein-beta expression in tissue and urine. PLoS ONE, 5 (10). e13363. ISSN 1932-6203 (doi:10.1371/journal.pone.0013363)

Laugel, V. et al. (2010) Mutation Update for the CSB/ERCC6 and CSA/ERCC8 Genes Involved in Cockayne Syndrome. Human Mutation, 31 (2). pp. 113-126. ISSN 1059-7794 (doi:10.1002/humu.21154)

2009

Mitra, A. et al. (2009) Overexpression of RAD51 occurs in aggressive prostatic cancer. Histopathology, 55 (6). pp. 696-704. ISSN 0309-0167 (doi:10.1111/j.1365-2559.2009.03448.x)

Antoniou, A.C. et al. (2009) Reproductive and hormonal factors, and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: results from the international BRCA1/2 carrier cohort study. Cancer Epidemiology Biomarkers & Prevention, 18 (2). pp. 601-610. ISSN 1055-9965 (doi:10.1158/1055-9965.EPI-08-0546)

2008

Harland, M. et al. (2008) A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL). European Journal of Cancer, 44 (9). pp. 1269-1274. ISSN 0959-8049 (doi:10.1016/j.ejca.2008.03.005)

Laugel, V, Dalloz, C, Tobias, ES , Tolmie, JL , Martin-Coignard, D, Drouin-Garraud, V, Valayannopoulos, V, Sarasin, A, and Dollfus, H (2008) Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. Journal of Medical Genetics, 45 (9). pp. 564-571. ISSN 0022-2593 (doi:10.1136/jmg.2007.057141)

Mefford, H.C. et al. (2008) Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. New England Journal of Medicine, 359 (16). pp. 1685-1699. ISSN 0028-4793 (doi:10.1056/NEJMoa0805384)

Tobias, E.S., and Connor, J.M. (2008) Genetic counselling for childhood tumors and inherited cancer-predisposing syndromes. In: Carachi, R., Grosfeld, J.L. and Azmy, A.F.F. (eds.) The Surgery of Childhood Tumors. Springer, Berlin, pp. 33-48. ISBN 9783540297338

2007

Balsitis, M, Cooke, A, Griffiths, S, Onen, NF, Shah, AA, Stewart, W, Traynor, JP, Upadhyaya, M, and Tobias, E. S. (2007) Gastric carcinoid: germline and somatic mutation of the neurofibromatosis type 1 gene. Familial Cancer, 6 (1). pp. 147-152.

Coucke, P et al. (2007) COL2A1-related skeletal dysplasias with predominant metaphyseal involvement. American Journal of Medical Genetics Part A, 143A (2). pp. 161-167.

Goldgar, D, Hayward, N, Hogg, D, Lang, J, Mackie, R, Palmer, J, Stark, M, Tobias, ES , and Tsao, H (2007) The M53I mutation in CDKN2A is a founder mutation that predominates in melanoma patients with Scottish ancestry. Genes Chromosomes and Cancer, 46 (3). pp. 277-287. ISSN 1045-2257

Lang, J, Hayward, N, Goldgar, D, Tsao, H, Hogg, D, Palmer, J, Stark, M, Tobias, ES , and Mackie, R (2007) The m531 mutation in CDKN2A is a founder mutation that predominates in melanoma patients with Scottish ancestry. Genes Chromosomes and Cancer, 46 (3). pp. 277-287. ISSN 1045-2257 (doi:10.1002/gcc.20410)

Tobias, E.S. (2007) The molecular biology of cancer. In: Rimoin, D.L. and Emery, A.E.H. (eds.) Emery and Rimoin's Principles and Practice of Medical Genetics. Churchill Livingstone Elsevier, Philadelphia. ISBN 9780443068706 (set)

2005

Spurdle, A.B. et al. (2005) The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers. Breast Cancer Research, 7 (2). R176-R183. ISSN 1465-5411 (doi:10.1186/bcr971)

2003

D'Haens, E, Fery, F, Kayserilli, H, Kleijer, WJ, Maassen, JA, Tobias, ES , Tukel, T, van der Zon, GCM, and Yuksel-Apak, M (2003) Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance. Journal of Clinical Endocrinology and Metabolism, 88 (9). pp. 4251-4257.

2002

Tobias, E.S. (2002) Questions on molecular medicine and genetics for the MRCP part 1. In: Basic Science MRCP Question Book. MPG Books, Bodmin.

Tobias, E.S. (2002) The molecular biology of cancer. In: Rimoin, D.L. and Emery, A.E.H. (eds.) Emery and Rimoin's Principles and Practice of Medical Genetics. Churchill Livingstone, London, UK. ISBN 9780443064340

Tobias, ES, Stephenson, JBP, and Tolmie, JL (2002) Cataplexy in the Prader-Willi syndrome. Archives of Disease in Childhood, 87 (2). p. 170. ISSN 0003-9888

2001

Barton, J, Bryce, G, Colgan, J, Cooke, A, Farmer, G, Morrison, N, Tobias, ES , and Tolmie, JL (2001) Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49 locus. Journal of Medical Genetics, 38 (7). pp. 466-469.

Hughes, KA, Hurlstone, AFL, Tobias, ES , McFarlane, R, and Black, DM (2001) Absence of ST7 mutations in tumor-derived cell lines and tumors. Nature Genetics, 29 (4). pp. 380-381.

MacKenzie, JR, Patrick, WJA, Tobias, ES , and Whiteford, ML (2001) A case of acro-renal-mandibular syndrome in an 18 week male fetus. Clinical Dysmorphology, 10 (1). pp. 61-64.

Tobias, ES, Hurlstone, AFL, MacKenzie, E, McFarlane, R, and Black, DM (2001) The TES gene at 7q31,1 is methylated in tumours and encodes a novel growth-suppressing LIM domain protein. Oncogene, 20 (22). pp. 2844-2853.

2000

Tobias, E.S., and Connor, M. (2000) Dyskeratosis congenita. In: Stevenson, R.E., Schwartz, C.E. and Schroer, R.J. (eds.) X-linked Mental Retardation. Series: Oxford monographs on medical genetics (39). Oxford University Press, Oxford, UK. ISBN 9780195129816

1999

Tobias, E.S., Morrison, N., Whiteford, M.L., and Tolmie, J.L. (1999) Towards earlier diagnosis of 22q11 deletions. Archives of Disease in Childhood, 81 (6). pp. 513-514. ISSN 0003-9888 (doi:10.1136/adc.81.6.513)

1997

Tobias, E.S., Rozengurt, E., Connell, J. , and Houslay, M.D. (1997) Co-transfection with protein kinase D confers phorbol-ester-mediated inhibition on glucagon-stimulated cAMP accumulation in COS cells transfected to overexpress glucagon receptors. Biochemical Journal, 326 (2). pp. 545-551. ISSN 0264-6021

1994

Tobias, E.S., Mann, C., Bone, I., de Silva, R., and Ironside, J. (1994) A case of Creutzfeldt-Jakob disease presenting with cortical deafness. Journal of Neurology, Neurosurgery and Psychiatry, 57 (7). pp. 872-873. ISSN 0022-3050

Tobias, E.S., Brodie, A.F., and Brodie, M.J. (1994) An outcome audit at the epilepsy clinic: results from 1000 consecutive referrals. Seizure, 3 (1). pp. 37-43. ISSN 1059-1311 (doi:10.1016/S1059-1311(05)80161-X)

This list was generated on Thu May 24 19:08:33 2012 BST.
  • Molecular genetic investigation of familial joint instability
    Yorkhill Children's Foundation
    2007 - 2015
     
  • Molecular genetic analysis of the putative tumour suppressor gene,TES,in human breast cancer
    Tenovus-Scotland
    2006 - 2012
     
  • Identification of high-penetrance gene alterations that predispose to familial melanoma in Scottish patients
    Scottish Executive Health Department
    2006 - 2008
     


Dr Tobias is the lead author of a new 2011 edition of a medical genetics textbook (Essential Medical Genetics 6th edition; 332 pages) that has been ranked top in its category by Amazon and is in use at Cambridge University and in many countries in Europe, Asia and North America. It is currently being translated into foreign languages.

Dr Tobias has also created an accompanying 30-page website that is freely accessible at www.essentialmedgen.com which has provided guidance to web resources and also genetics updates to visitors from the UK and over 50 other countries.

He is the author of several book chapters including a 60-page chapter in the principal international medical genetics reference book (Principles & Practice of Medical Genetics).

He is a reviewer for Elsevier Press and the Oxford University Press. He is also an external examiner for postgraduate medical genetics at Aberdeen, Dundee and Newcastle universities.

At Glasgow University, he is the lead for the new undergraduate curriculum in medical genetics for MBChB year 3. For that new course, he recently personally created and delivered an entire series of seven 1-hour multimedia interactive lectures and also delivered 7 hours of case-based learning, all of which were extremely well received.

Dr Tobias is also involved in running the internationally renowned MSc in Medical Genetics course which attracts a large number of students from all over the world. He lectures on 8 other courses at Glasgow University.

 

Prizes, Awards and Distinctions

  • 2012: SRC, University of Glasgow - SRC Student Teaching Award for Best Teacher MVLS (shortlisted) following detailed nominations from approximately 20 students.
  • 2012: SRC, University of Glasgow - Winner of SRC StudentTeaching Award for Best Subject Area - Medical Genetics.
  • 2012: University of Glasgow - Recently shortlisted for a Teaching Excellence Award
  • 2011: British Society for Human Genetics - Research prize for work on the elucidation of the molecular genetic basis of the SDHD-related parent of origin effect. Annual conference. University of Warwick.
  • 2011: YCF Prize - Awarded to SpR, Ruth McGowan, for work on human developmental genes and loci.
  • 2009: Scottish Executive Health Department - Grading of melanoma gene work as Excellent/clearly outstanding by the Chief Scientist Office Scientific Committee.
  • 2008: Scottish Breast Cancer Network Dundee - Prize to a postgraduate student for the analysis of BRCA1 and BRCA2 variants by computational methods.
  • 2007: UK Women's Federation - Prize awarded for molecular genetic work on the role of the TES gene in breast cancer, by another student in Dr Tobias laboratory.

Professional Learned Society

  • 2012 - ongoing: Association of Physicians of Great Britain & Ireland - Elected as Member
  • 2004 - ongoing: Royal College of Physicians - Elected Fellow

Research Fellowship

  • 2012 - ongoing: Higher Education Academy - Fellowship of the HEA after detailed peer review.
  • 2001 - 2006: GlaxoWellcome (GlaxoSmithKline) Clinical Research Fellowship - Only two of these are awarded annually in the UK.
  • 1993 - 1996: Medical Research Council - Training Fellowship (for the duration of a PhD in Molecular Biology)