Medical Genetics

Example Dissertation Topics

The feasibility of implementing microarray technology in a clinical diagnostic setting in Singapore: A pilot study with National University Hospital in comparing the various platforms. In this project samples from 8 patients from NUH were sent for analysis using three different microarray platforms; comparative evaluation of the results of the microarray with previous diagnoses made in these patients was used to generate proposals for future practice in the Singapore cytogenetics laboratory.

Combined gene and cell therapy for critical limb ischemia: Rationale and experimental design for a potential PhD project. This project generated a detailed experimental plan for investigation of the efficacy of overexpressing angiogenic 'master switches' in conjuction with an arteriogenic agent as a novel treatment for peripheral arterial disease/ critical limb ischemia.

Analysis of HFE mutations in symptomatic carriers of C282Y: are other mutations contributing to iron overload phenotype?  This laboratory based project involved RFLP and sequencing analysis of HFE gene in West of Scotland patient DNA samples in order  to establish whether there was evidence that other variants of HFE might influence the phenotype of C282Y.

Taking familial hypercholesterolaemia to heart: Feasibility of a national cascade genetic screening programme for FH in Ireland. The dissertation examined the feasibility from all angles from the pathophysiology of the condition to costing and ethical issues, and investigating FH programmes already in use in other countries. Various models of screening are evaluated and recommendations made as to which is most suitable, including a propsed 'welcome pack' for distributing information about screening to patients.

Remote pre-conditioning, a non-invasive method for reducing heart damage and end organ damage following cardio pulmonary bypass. This project analysed the available evidence from human trials in order to propose future research directions aimed at management of pediatric cardiac patients.

Multiple Myeloma: Prognostic influence of translocations and the future importance of detection in diagnostics. Investigation into the translocations involved in multiple myeloma and effects on proliferating plasma cells, examination of the diagnostic techniques currently available, and future developments.

RNAi therapeutics: A potentially novel therapy for CML patients. Identification of a hitherto unexplored route for specific siRNA delivery to CML cells through antibody-mediated delivery, and suggested framework for future clinical trials.

Host genetic determinants of HIV-1 infection and disease progression: Implications for new therapies.
An investigation of HIV disease pathogenesis and individual human genetic determinants that affect infectivity, identifying possible new and promising areas of therapeutic intervention.

MeCP2: the genome's wild card. Analysis and discussion of some of teh recognised roles of MeCP2. An objective analysis of the most relevant reported functions of MeCP2 with suggestions for future research approaches that could provide a better understanding of MeCP2 and its role in the normal functioning of neurons.

The association of melanocortin 1 receptor (MC1R) gene variants with superficial spreading melanoma in the Scottish population. A laboratory-based study, sequencing the MC1R gene from Scottish melanoma patients and controls in order to correlate gene variants with melanoma risk.

Von Hippel-Lindau disease: genotype phenotype correlations, risk prediction and screening. Risk prediction and clinical screening in relation to genotype / phenotype correlations using both literature review and audit of clinical records of mutation carriers in Scotland.

Improving the cytogenetic department of the central lab, Riyadh, to diagnose patients with unexplained mental retardation. Current practice together with recommendations for improving the services offered by this laboratory.

Filaggrin: the key to the atopic puzzle. Reviewed recent advances in understanding of the molecular defect in ichthyosis vulgaris, tying this in with theories underlying the basis of atopic conditions, and finally proposing a novel screening test.

The synergetic effect of autophagy inhibition in tyrosine kinase inhibitors treatment: will the management of CML improve? Rationale and experimental design for the author’s PhD project which commenced after completion of the MSc.

Investigating familial breast cancer and the genes involved: including an audit of 1176 individuals with a family history of breast cancer. An investigation of the known or suspected breast cancer genes and their relative contributions in breast cancer; also included an audit of patients previously given either low, medium or high risk of breast cancer from family history.

Ethical issues associated with progress of forensic DNA phenotyping. Considered the future possibilities of deducing phenotype from DNA evidence and ethical issues associated with this.