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Gemma Casebook Experience Background –PhD & postdoctoral research (7 years) –Clinical scientist 1997 –FRCPath Part 1 exam 2000 –Started thinking about.

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Presentation on theme: "Gemma Casebook Experience Background –PhD & postdoctoral research (7 years) –Clinical scientist 1997 –FRCPath Part 1 exam 2000 –Started thinking about."— Presentation transcript:

1 Gemma Casebook Experience Background –PhD & postdoctoral research (7 years) –Clinical scientist 1997 –FRCPath Part 1 exam 2000 –Started thinking about options 2002 –First considered PhD option relevant but too old (1994) –Next considered Papers option 6 first author papers (pre-CS) – 1992-99 Relevant (some too old)

2 Decision - Casebook Each of 6 (pre-CS) papers as individual cases –Updating content & discussion 7 th case - paper reviewing an immunodeficiency service (work carried out as CS) 8 th case – interesting Wiskott-Aldrich syndrome family (work carried out as CS)

3 Casebook Proposal Submitted proposal in 2003 Short & simple - 1.5 pages long (< 1hr) Stated that data from 7 papers presented & discussed in light of recent findings Then listed 7 cases by their paper titles Stated 8 th case would cover an interesting immunodeficiency family News proposal approved within few months

4 Casebook Title Molecular Analysis of the UGT1A1 TATA Box in a Gene Family Associated with Crigler-Najjar and Gilbert Syndrome and Genes associated with Wiskott-Aldrich and Hyper IGM Syndromes

5 Cases (pre-CS) Genetic variation in bilirubin UDP- glucuronosyltransferase gene promoter & Gilbert syndrome UGT1A1 genotyping in a Canadian Inuit population Gilbert syndrome is a contributory factor in the prolonged hyperbilirubinaemia of the newborn

6 Cases (2, pre-CS) Localisation of a bile acid UDP- glucuronosyltransferase gene (UGT2B4) to chromosome 4 using PCR Isolation of a human YAC contig encompassing a cluster of UGT2 genes & its regional localisation to chromosome 4q13 Structure of the human UGT2B4 gene encoding a bile acid UDP- glucuronosyltransferase

7 Cases (3, work as CS) Use of X-inactivation analysis to infer carrier status in a family with Wiskott- Aldrich syndrome Review of the screening service for Hyper IgM at GOSH

8 Writing Casebook The first 6 cases – mostly done by mid 2005 1 year maternity leave, returning mid 2006 Unaware - must submit within 3 yrs of proposal accepted!! Now 3.5 years later Spoke to RCPath – allow 4 yr to submit (due to 1yr maternity) Submitted at 4 yrs – 3-4 months -> PASS!

9 Things to note 3 year deadline Using papers as cases can be more work than expected if papers cover lot of work

10

11 PhD Option Investigation of the molecular basis of Spinal Muscular Atrophy (SMA) in South African Patients

12 Introduction & Aim Pilot SMA study in S Africa –65% black SMA patients homozygous SMNt gene del (95% in white) –Different molecular basis of SMA in population –Aim to investigate molecular basis of SMA in SA black population

13 Methods & Results Dosage assay for SMNt del heterozygotes developed Heterozygosity confirmed in 70% non- homozygous del black SMA patients Carrier frequencies determined for black & white SA populations SSCP, seq & blot ->to identify 2 nd mutation

14 Methods & Results (2) 3 seq variants, none functionally significant Blot –no large scale rearrangements Linked marker analysis (8 linked markers) –No common chromosomal background for 2 nd mutation

15 Conclusions SMA in South Africa more common than previously thought Inclusion of SMNt dosage assay into service increases % of cases in which diagnosis can be confirmed Allow carrier detection Thought that a rearrangement of SMNt gene in black SMA population - unconfirmed

16 Initially... PhD thesis already completed Submitted an abstract to exams office to check suitability No response from college despite repeated emails..........

17 Then..... Submitted –covering letter –1 copy of thesis –Confirmation of award of the degree –CV –Update on new developments since thesis written (2003)

18 Update... Disease / population specific updates –No further work had been carried out Technical Advancements –MLPA for dosage –Technique explained & eg results given


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