Dissertations

1. Dissertations • Dr Teresa Davies

2. Dissertations • Dissertations should only be submitted after a proposal, agreed by the appropriate Panel Chair has been accepted by the college – the proposal will be included with the dissertation when submitted to the examiners.

3. DISSERTATIONS • The standard expected is approximately equivalent to that of an MSc project. The project does not need to break new ground but should show that the candidate has followed the scientific method of investigation and has written their report appropriately to a good standard

4. Content • ABSTRACT • INTRODUCTION • This should place the project in the context of current literature. This would normally be at least a 1000 words (5 pages) and well referenced

5. Methods • The methods used should be well described in standard terms. Any new methods should be written up sufficiently well for another scientist or clinician to follow.

6. Methods • If patient groups are used then their recruitment and characteristics should be described. It is very important that if candidates are describing the characteristics of a new test, it is used in all the patients so that it’s sensitivity and specificity can be described. If the new test is only used in patients discovered positive by another test then it is important that this limitation is identified and sensitivity and specificity are not quoted. Statistical methods should be described

7. RESULTS • These should be written up using standard terms. Graphs and tables should be appropriately labelled and placed in the text as appropriate points. Appropriate use of statistics is important

8. Discussion and Conclusion This should follow naturally from the results. It is important that the conclusions do not go further than the results warrant. The discussion should include current literature.

9. REFERENCES • These should be in standard format. Examiners are not expected to check every one, but it is important that some are checked as candidates have been known to get these wrong.

10. Any scientific or technical help with the material or investigations should be acknowledged. • The most contentious aspect often been the length of the reports – avoid excessive wordiness.

11. Marking Scheme • Candidates have their dissertations graded A, B, or C • Grade C should only be used where the work does not follow the project proposal and is completely unsound.

12. Marking Scheme • Grade B should be used where there are remediable errors, usually in the write up. • It is often difficult for extra work to be undertaken and should not be requested unless it was clearly stated in the proposal and has not been done. • Grade A implies satisfactory project work written up to a good standard.

13. Titles of successful written work • The plan is to publish in the college bulletin, website regularly – 2008/09 now on website

14. Examples of case books • Non random abnormalities of chromosome 9 in haematological disorders • The clinical implications and value of molecular cytogenetic and molecular genetic studies in seven cases of CLL • A series of chorionic villus samples displaying chromosomal mosaicism • FISH applications in ALL • An investigation into the low mutation detection rate for Holt Oram syndrome and the development of a sensitive method for detecting mutations in the TBX5 gene • Interpretation dilemmas in prenatal diagnosis following the detection of de novo chromosomes abnormalities with uncertain phenotypic effect • Case studies in molecular genetic analysis of inherited metabolic disorders

15. Examples of casebooks • Molecular analysis of the UGATA1 Tata Box in a gene family associate with Crigler-Najjar and Gilbert syndrome • Enhanced interpretation of malignancy cases by molecular cytogenetic techniques • Variant translocations in Oncology • Molecular cytogenetic techniques and their use in delineating constitutional cytogenetic abnormalities • Molecular diagnoses in patients/families with mitochondrial disorders or endocrine disorders • The clinical significance of constitutional and acquired cytogenesis’s abnormalities illustrated by reference to abnormalities of chromosome 1 • Interpretation dilemmas in prenatal diagnosis following the detection of de novo chromosomes abnormalities with uncertain phenotypic effect • Molecular genetic investigations of inherited cancers and haematological malignancies

16. Examples of dissertations • Comparison of the uses and validity of offering techniques in the identification of genetic abnormality and diagnosis of haematological disease • Syndromic and non syndromic hearing loss- development of a molecular genetic clinical service • Evaluation of DNA array technology as a diagnostic tool • Introduction of DHPLC technology into a diagnostic DNA laboratory • Establishment of a molecular genetic service for Pelizaeus Merzbacher Disease and Spastic Paraplegia type 2 • Molecular diagnosis of hereditary NPCC • An investigation into the low mutation detection rate for Holt Oram syndrome and the development of a sensitive method for detecting mutations in the TBX5 gene • Molecular genetic analysis of atypical haemolytic uraemic syndrome • The development of denaturing gradient gel electrophoresis (DGGE) as a diagnostic tool in inherited peripheral neuropathies • Distribution and frequency of mutations identified within the mismatch repair genes hMLH1 and hMSH2 associated with HNPCC and their predicted pathogenic effect • The development of denaturing gradient gel electrophoresis (DGGE) as a diagnostic tool in inherited peripheral neuropathies

18. What are the examiners looking for ?

19. Marking and Feedback • Two examines mark independently • If disagreement goes to panel chair for casting vote • If B or C feedback will be given as to what is needed • Work resubmitted goes back to original al examiners

20. Casebooks

23. Dissertations

24. All dissertations should be considered overall. Any dissertation with a section which is unacceptable should be considered for a rewrite. Dissertations which are mostly acceptable with occasional borderline areas (for example occasional typos or rather long winded introduction) may be considered for an A overall if borderline areas do not detract from the principal results and conclusions of the work. The remainder should be returned for rewriting.

28. Examiner guidelines • All dissertations should be considered overall. Any dissertation with a section which is unacceptable should be considered for a rewrite • Dissertations which are mostly acceptable with occasional borderline areas (for example occasional typos or rather longwinded introduction) may be considered for an A overall if borderline areas do not detract from the principal results and conclusions of the work • The remainder should be returned for rewriting • The dissertation cannot be rejected at the written stage if the Examiner considers that there is an inadequate project design • if this was passed by the Panel Chair

29. Examiner feedback Work graded A do not require feedback Work graded B will have a report on a separate sheet This should contain nonperjorative comments designed to help the candidate rewrite their submissions. Where possible examples of errors should be quoted. Examiners should avoid sarcasm. The intention of feedback is for the candidate to produce work which will get an A at the next attempt

30. Examiner comments • References not presented in a consistent manner • FISH probe loci not presented in a consistent manner • Incorrect references - the examiners will probably know most of them and may check • Methods incomplete - e.g. methods refer to bone marrows but bloods also included • Use of abbreviations • Accuracy and typos • Clinical details patchy • Introduction was brief and offers an uncritical summary of the literature • In introduction textbook references are provided - although appropriate in some cases the candidate would be expected to cite original publications • Sources of figures of not candidates own should be acknowledged

31. Examiner comments • There should be a critical appraisal of techniques used in the clinical context of the cases presented • The candidate should demonstrate an up to date knowledge and understanding of where diagnostic testing is moving to in the future and an awareness of potential impact of new molecular tests • Each cases ahs a materials and methods section, to reduce repetition these should be combined into a single section • The content of the introduction and discussion should be reviewed and restructured - some things need moving from discussion to introduction • Images of variable quality • Comment on the sensitivity of the methodologies • RNA studies require further development - what further development • A diagram of the mutations identified would be useful

32. Examiner comments • Various clinical criteria are referenced but not explained • The candidate states it has low specificity - what is the specificity • Information is there but mixed up and could be presented in a way that is a lot clearer • The patient groups should be identified in the methods • Figure legends should be more informative • In figure 14 and 15 Patients name is evident and should be removed • The quality of G banded images included was inadequate to confirm the interpretation of the abnormalities reported • The aim of the casebook is stated as being…..this would be a very tall order

34. Questions and answers

35. Question • Is it possible to combine routes – e.g. papers plus dissertation?

36. Answer • No but …. • Can use papers as case reports • Can use work from PhD in dissertation • Needs to be up to date and/or include discussion of current practice

37. Question • How do you go about submitting your proposal for approval?

38. Answer • See information on college website • All go to Chair of exam panel for approval – usually quite quick

39. Question • Is there a time of year you need to make proposals?

40. Answer • Can be submitted any time • Not advised to undertake work before proposal accepted – some do get rejected • Once proposal approved you cannot submit a different project – the proposal and written work will both go to the examiner!

41. Question • Timescale from proposal to submission?

42. Answer • Three years – there were some in my filing cabinet that are > 10 years old! • Can be extended if special circumstances – eg mat leave , apply to the college • Work must reflect current practice

43. Question • Is the college strict on dates it will accept them for the next oral exam

44. Answer • The finished project must be submitted at least 4 months before the beginning of the part 2 (allow 6) examination period for which the candidate wishes to enter • The college cannot guarantee that a project will be marked in time for the candidate to undertake the examination if • * It is submitted less than 4 months before the beginning of the examination period (ie Jan) • *It is submitted more than 4 months in advance but has to be returned to the candidate for amendments

45. Applications for the part 2 viva may be submitted whilst the written option is still under consideration by examiners, but entry to the exam will not be confirmed until the written option has been awarded a pass mark • Candidates who withdraw from their part 2 exam while their written option is under consideration will not forfeit their fee

46. Do not add to your stress levels and submit well in advance!

47. Question • Would the inclusion of molecular genetic analysis be expected in a cyto dissertation?

48. Answer • Not expected but it would be acceptable and will become increasingly common • A cytogeneticist could include a predominately molecular dissertation as long as it was related to cytogenetics as it is a cytogenetics exam • Also molecular work could include some cytogenetics

49. Question • Can the dissertation include practical work that you have carried out in the last few years?

50. Answer • Yes as long as not too old > 5 years • Undertaken during candidates period of training for FRCPath • For a PhD probably not acceptable if undertaken prior to part 1 – could be written up as a dissertation • Allows assessment of the practical ability of candidates based on work performed in the dept in which they are employed. • It should arise from the normal work and interests of the dept