Download GENE 313: Medical Genetics

GENE 313: Medical Genetics

OVERALL OBJECTIVE:
The overall objective of GENE 313 is to develop an
appreciation of how important genetics is in
understanding the pathogenesis of human disease
states. Staff from the Departments of Biochemistry,
Pathology and Women’s and Children’s Health are
involved in teaching the Medical Genetics course, with
teaching carried out in combination of lecture and
laboratory sessions. The prerequisites are GENE 221,
222 & 223, but good performance in other relevant
papers will be considered.
 
THEME 1. GENE LOCALIZATION AND
MENDELIAN DISORDERS - DR DAVID
MARKIE
(4 lectures, 1 laboratory)
Topic 1. Single Gene Inheritance in Human Pedigrees
 
THEME 2. DISEASES WITH COMPLEX
GENETIC ARCHITECTURE – PROF TONY
MERRIMAN (5 lectures)
Objectives
1. Recognise that the aetiology of complex disease
is controlled by the interplay between genes and
environment.
2. Understand the methodology underlying differnt
types of approaches that can be taken to identiy
disease susceptibility genes in humans including
positional cloning, linkage mapping, and association
analysis.
3. To be familiar with the design considerations as
applied to association analysis, specifically candidate
gene approaches and whole genome screening, and to
be familiar with the methodological issues that impact
on both approaches.
4. To understand the concepts of linkage
disequilibrium and haplotype blocks and how they
impact on the search for disease genes.
5. To recognise how copy number variation in the
genome may underlie susceptibility to disease.
Laboratory 1: Segregation in Pedigrees – Dr Markie
THEME 3. SINGLE GENE DISORDERS/
GENE ENVIRONMENT INTERACTIONS PROF STEPHEN ROBERTSON
Objectives
(7 Lectures, 4 Laboratories)
1. Recognise conventions for depicting human
pedigrees and identify classical patterns of single gene
inheritance for characters determined by autosomal, sex-linked and mitochondrial genes.
2. Understand the concepts of pleiotropism, variable expressivity (including anticipation), locus
heterogene ity and allelic heterogeneity, and
incomplete penetrance as they relate to single gene
traits.
3. Be aware of the effects that new mutation,
soatic mosaicism, germline mosaicism and mistaken
parentage may have on pedigree interpretation.
4. Understand the effects of imprinting on inheritance
in pedigrees and recognise somatic genetic disorders
as special cases of non-inherited single gene traits.
Objectives
1. To understand how genetic conditions present
clinically; what the clinical issues are; how they are
resolved and communicated to families; what the
future of genetics is in medicine.
2. To learn how the study of birth anomalies and their
genetic components have increased our understanding
of development.
3. Appreciate how genetics is contributing to the
diagnosis and management of non-mendelian genetic
disease
4. To gain an appreciation of the role of geneenvironment interactions in the causation of disease in
humans.
5. To gain an appreciation of the scientific, logistical and
ethical complexities that arise when applying genetic
approaches to public health problems.
 
GENE 313: Medical Genetics (cont’d)
 
THEME 4. CHROMOSOMES
– PROF STEPHEN ROBERTSON, DR GILLIAN MACKAY
(2 lectures, 2 laboratories)
Objectives
1. Describe the cytogenetic appearance of human chromosomes and common approaches to
visualisation of chromosome structure.
2. Explain the nature of common human
chromosomal aberrations, including aneuploidies,
translocations, inversions, deleions, duplications,
isochromosomes and ring chromosomes.
3. Describe mechanisms giving rise to significant
human chromosomal aneuploidies.
4. Explain the concept of human “genomic disorders”,
with illustrative examples, and the role of non-allelic
homologous recombination in their genesis.
5. Appreciate the increasing role that array
comparative genomic hybridisation is playing in the
recognition of chromosomal imbalances.
 
Assessment
The final exam is worth 60% of the final mark. All
course content including that covered by guest
lecturers is examinable. ). Practicals (20% of mark).
Students are required to write a report on
laboratory one “Pedigrees” (4%), five and six
“Epigenetics” (8%) and seven “Clinical Genetics”
(8%). There is also an essay worth 20% of the
final mark. These essays will be marked and you will
receive feedback on them, to allow you to practise
writing skills in preparation for the final examination.
 
THEME 5. CANCER GENETICS AND
EPIGENETICS – DR DUNBIER & PROF
IAN MORISON.
(7 lectures, 2 laboratories)
Objectives
1. To understand that cancer is a genetic disease and
the role than inherited and acquired genetic variation
contributes to lead to cancer disease states
2. To understand some of the molecular
mechanisms that contributes to the development
of cancer, in particular the role of oncogenes and
tumour suppressor genes.
3. To understand the multi-stage nature of the
pathogenesis of cancer.
4. To study the molecular basis of specific cancers in
depth.
5. To develop an appreciation of how genetic/
molecular information may be used in the
development of diagnostics and therapeutics.
6. Understand how epigenetic modifications alter
gene structure and function.
7. Appreciate the role that epigenetics can have on
disease expression over the human lifespan.
 
Teaching staff:
Prof Stephen Robertson (Course Coordinator),
Prof Ian Morrison, Dr David Markie, Prof Tony
Merriman, Prof Parry Guilford, Dr Anita Dunbier, Dr
Erin Daly & Dr Gillian MacKay.
For more information please contact: [email protected]
or visit: www.otago.ac.nz/genetics