Programme Structure

Module 1: 3rd October to 21st October 2011

Both programmes take Basic Genetics (examined by problem booklets, lead Sioban SenGupta)

Basic Genetics

AIMS - To provide knowledge of basic human genetics, human genetic variation, linkage analysis, genetic and physical maps, the relevance of the human genome project, comparative mapping, identification of candidate genes, mutation, to provide skills in analysis of family pedigrees and the use of different biological databases available on the Internet.

Lecture list

• Introduction to cytogenetics
• Practical Aspects to FISH
• Introduction to PCR
• Practical Aspects of PCR
• DNA replication, Transcription and Translation
• Bioinformatics
• Linkage
• Finding the mutation
• Polygenic and multifactorial inheritance
• Animal Models
• Microarrays

Module 2: 24th October to 11th November 2011

Both programmes take Gametogenesis, preimplantation development and IVF (examined by essay, lead Joyce Harper)

Gametogenesis, preimplantation development and IVF

AIMS – to provide knowledge into the theory and practical aspects of gametogenesis, preimplantation development and IVF.

Lecture list

• World of the unborn
• Anatomy of the female and male reproductive tract and meiosis
• Spermatogenesis
• Clinical andrology
• Male infertility and sperm dysfunction
• Oogenesis
• Female infertility
• Fertilisation
• Preimplantation development
• Infertility treatments
• Laboratory aspects of IVF
• Clinical aspects of IVF
• IVF demonstration
• Video of IVF

Two day visits to the IVF unit.

Module 3: 14th November to 2nd December 2011

Reproductive Science take Female reproductive physiology and anatomy (examined by exam, lead Greg Fitzharris)
Prenatal Genetics take Genetic mechanisms (examined by exam, lead Sioban SenGupta)

Genetic mechanisms

AIMS - to provide knowledge of how genes function in a variety of cellular pathways and provide molecular evidence to explain how genetic disorders arise.

Lecture list

• Mutation and genetic disease
• Mendels Laws and inheritance
• Genesis of chromosome abnormalities
• Mitochrondrial genetics
• X-inactivation
• Imprinting
• Repair mechanisms
• Cancer Genetics
• Cellular senescence and cancer
• Triplet repeats
• Biochemical Genetics
• Gene therapy

The last two weeks of term 1 are taken up with revision for exams, handing in genetics booklets, preparation of essays, discussion about projects and a seminar presentation on a topic related to the course.

Module 4: 9th January to 27th January 2012

Reproductive Science take Pregnancy and childbirth (examined by essay, lead Donald Peebles)
Prenatal Genetics take Organogenesis and fetal development (examined by exam, lead Joyce Harper)

Organogenesis and fetal development

AIMS – to provide knowledge into the development and imaging of the organs of the body.

Lecture list

• Genes and growth factors involved in development
• Implantation
• Development of placenta and extra embryonic membranes
• Stem cells
• Introduction to organogenesis
• Ultrasound scans 1 - The normal scan – nuchal, dating
• Visit to the FMU to see patient being scanned.
• Ultrasound scans 2 – The normal scan – anomaly scan and normal growth scan
• Ultrasound recordings 3 - Soft markers
• Development of fetal gonads and defects in sex determination
• Development of the gut
• Kidney development
• Pattern and limb formation
• Imaging - Skeletal and limb abnormalities
• Development of the liver
• Ultrasound recordings 4 - GI, renal and GU, skeletal and limb abnormalities
• Development of the respiratory system
• Imaging - Thoracic abnormalities
• An outline of brain development
• Molecular basis of nervous system development
• Imaging - CNS/Spinal abnormalities
• Molecular basis of heart development
• Imaging - Cardiac abnormalities
• Ultrasound recordings 5 - cardiac, CNS and spinal abnormalities Fetal MRI

Module 5: 30th January to 17th February 2012

Both programmes take Prenatal diagnosis and screening (examined by essay, lead Anna David)

Prenatal diagnosis and screening

AIMS – to provide knowledge into the theory and practical aspects of prenatal diagnosis and screening.

Lecture list

• The 12 week scan
• 20 week scan and markers for chromosomal abnormalities
• Routine 20 week scan
• Principles
• Chromosome abnormalities
• Genetic syndromes
• Non invasive Prenatal Diagnosis
• Invasive Procedures
• Recordings of amniocentesis and CVS
• Cytogenetics - classical methods
• Cytogenetics - New molecular methods
• The role of the geneticist
• Visit to the cytogenetics lab
• Prevention of the Haemoglobinopathies
• Prevention of the Haemoglobinopathies (lab)

One day visit to the FMU.

Module 6: 20th February to 9th March 2012

Reproductive Science take Reproductive Health (examined by exam, lead Paul Hardiman)
Prenatal Genetics take Medical Genetics (examined by essay, lead Christopher Jones)

Medical genetics

AIMS – to provide knowledge of basic medical genetics and how genetic disease arises, to provide knowledge of human genetic variation, and ethical implications of genetic screening.

Lecture list

• Cystic Fibrosis
• Duchenne Muscular Dystrophy
• Charcot Marie Tooth Disease
• Batten’s Disease
• Genetics of Epilepsy
• Breast Cancer / Ovarian cancer
• Prion Disease and spongiform encephalopathies
• Genetic counselling
• Ethics Lecture
• Ethics Workshop

The last two weeks of term 2 are taken up with revision for exams, preparation of essays, preparing for project and a seminar presentation.

Module 7: 23rd April to 11th May 2012

Reproductive Science take Breast and Reproductive Cancers (examined by exam, lead Christopher Jones) Prenatal Genetics take Fetal medicine (examined by exam, lead Eric Jauniaux)

Fetal Medicine

AIMS – to provide knowledge into the theory of fetal medicine and its role in today's society.

Lecture list

• Provision of results/needs of parents
• Problems of prematurity
• Miscarriage: Epidemiology, Genetics and PGD
• Viral/congenital infection
• Hydrops
• IUGR
• Twins
• Early pregnancy failure
• Fetal surgery
• Rhesus disease
• The role of the pathologist
• The role of the neonatologist
• Tour of neonatal unit in two groups
• Termination of an abnormal pregnancy
• Gene Therapy
• Ethical Aspects

One day visit to the FMU.

Module 8: 14th May to 1st June 2012

Both programmes take Preimplantion genetic diagnosis (examined by exam, lead Joyce Harper)

Preimplantation genetic diagnosis

AIMS – to provide knowledge into the theory of preimplantation genetic diagnosis and to teach the laboratory skills of PCR and FISH

Lecture list

• Introduction to PGD
• Embryo biopsy
• Fluorescent in situ hybridisation
• PGD for chromosomes abnormalities
• Molecular methods of PGD
• Future Developments
• Ethics
• Ethical discussion
• Video on PGD
• FISH practical
• Looking at FISH slides
• Isolation of single cells and putting on PCR
• PCR practical