Medical Genetics

Programme Structure

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The programme is delivered by a team of enormously-dedicated (and award-winning) staff (please see Awards and Testimonials) - who are also research-active in both teaching and medical genetics.

The many cutting-edge medical genetics and genomics topics that are taught in lectures, tutorials or interactive clinical problem sessions given by University and NHS staff include the following:

Human genomic structure, function and analysis
• Next generation (massively parallel, high-throughput) sequencing (NGS; shown below with a BRCA1 gene deletion)
• Array comparative genomic hybridisation (aCGH)
• Exonic splice enhancer (ESE) sequences
• Bioinformatic analysis of genomic variants
• Gene regulation
• Genomic copy number variants (CNVs)
• Genomic microdeletions and microduplications

Clinical genetics and Personalised/stratified medicine
• Single nucleotide polymorphisms and mutations
• Human genetics and genetic diseases
• Inheritance mechanisms – typical & atypical
• Difficult clinical cases
• Genotype-phenotype correlations
• Molecular pathogenesis of genetic disorders
• Molecularly targeted therapies
• Gene therapy techniques
• Gene delivery systems and vectors

Bioinformatics
• Bioinformatic tools for mutation analysis (shown below)
• Computerised dysmorphology diagnosis
• Online diagnostic algorithms
• Clinical information sources online
• Oligonucleotide primer selection
• Online single nucleotide polymorphism detection
• e-PCR online

The latest molecular genetic diagnostic techniques
• Non-invasive prenatal diagnosis (NIPD)
• Digital PCR
• Pre-implantation genetic diagnosis (PGD)
• Pre-implantation genetic haplotyping (PGH)
• Multiple ligation-dependent probe amplification (MLPA)
• Allele-specific PCR, ARMS and OLA
• Triplet-repeat primed PCR (TP-PCR) and
• Quantitative fluorescent PCR (QF-PCR).

Student-selected additional components
• Dissertation on a topic selected by each student for in-depth study
• Optional practical use of diagnostic software and online analyses
• Optional practical use of software for DNA variant data analysis (eg from high-throughput exome sequencing). Student comments on this have included: “a fantastic opportunity” and “was amazed”.
• Optional attendance at genetic counselling clinics in the Clinical Genetic Department at the new Southern General Hospital Laboratory Medicine Building (shown above).

Extensive electronic resources
• Our students also have access to a continually updated and very extensive Moodle system (virtual learning environment) and to an
• Online web-portal with regularly updated direct links to >70 worldwide genetic databases & online algorithms (plus exciting new genetics discoveries), all grouped into useful accessible categories. These online genetic databases and algorithms relate to the analysis of genomes, genes, proteins, single nucleotide polymorphisms (SNPs), genetic conditions and ethics. 
 

Course A: Molecular Genetics (20 credits: September - March) 
In Course A you will study the molecular basis of inherited disease and cancer, and the molecular technologies that are currently used in medical genetics molecular diagnostics.

Course B: Cytogenetics (15 credits: September - March) 
This Course includes chromosome structure, nomenclature and behaviour, and the underlying causes and effects of chromosomal disorders, together with the diagnosis of chromosomal disorders by current cytogenetic and molecular cytogenetic techniques.

Course C: Biochemical Genetics (15 credits: September - March)
Course C covers the use of biochemical methodologies in screening and diagnostics for inherited diseases and congenital abnormalities, including analysis of data from biochemical tests.

Course D: Clinical Skills (10 credits: September - March)
Course D covers the principles and practice of clinical medical genetics, including pedigree analysis, genetic risk calculation, genetic counselling and ethical considerations in clinical genetics.

Course E: Case Investigations (30 credits: April - June) 
In Course E you will work in a group with other students to investigate real clinical case scenarios, providing possible diagnoses if appropriate, suggesting further investigations, management and/or treatment options. Each group produces a report of their findings and students give individual presentations on an aspect of the case.

Course F: Integrated Case Studies (30 credits: April - June) 
Course F assesses the ability of each student to analyse case scenarios involving individuals and / or families with genetic disease, and, where appropriate, to see beyond the immediate problem to identify other key issues.

Course G: Research Skills (60 credits: September - September)  (Dissertation element June -September)
Course G includes a series of taught practicals, together with numeracy skills relevant to working in the laboratory. You will also carry out an independent piece of research on a relevant topic, either a laboratory-based or library/clinical data-based investigation and write this up as a dissertation.