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IA Molecules in Medical Science : Genetics teaching components

Members of the Department of Genetics contribute the following components of the course:

Professor Erik Miska : Transcription, Translation and Control

Lecture 1

  • Transcription in prokaryotes and its control Course overview – The Central Dogma
  • What is a gene? What is mRNA?
  • Basic mechanism of RNA synthesis (transcription) Regulation of transcription
  • The lac repressor and the catabolite activator protein (CAP) Antibiotics that inhibit prokaryote transcription

Lecture 2

  • Transcription in eukaryotes and its control RNA Polymerases
  • Eukaryotic promoters and upstream regulatory elements Regulation of transcription
  • Roles of chromatin
  • Enhancers and response elements
  • Tissue-specific and developmentally regulated transcription factors Transcription factors and cancer

Lecture 3

  • Pre-mRNA processing - from pre-RNA to mature mRNA ‘Polishing’ pre-mRNA
  • 5’ Capping
  • Termination and polyadenylation RNA splicing
  • Alternative splicing
  • Anomalous splicing and cancer – Wilms tumour Making cDNA and genomic libraries

Lecture 4

  • Translation - Protein synthesis Control of mRNA stability
  • Genetic code
  • tRNA structure and charging with amino acids Ribosomes and polysomes: structure and function Initiation of translation

Lecture 5

  • Translation continued – Elongation, termination, degradation     Elongation
  • Control and termination of translation
  • Antibiotics that target the translational machinery
  • Protein degradation – the lysosome and the proteasome, ubiquitin. Gene expression studies, arrays and cancer
  • MicroRNA, siRNA and RNAi.

Professor Anne Ferguson-Smith :  Introduction  to  Medical  and  Veterinary Genetics

The aim of these lectures is to introduce you to the importance of genetics in human and animal health and to focus on many of the basic principles and concepts which form the foundation for understanding genetics in the clinic and in biomedical research today.

Lecture 1

  • Introduction and foundations
  • Karyotypes and the architecture of chromosomes Pedigrees and kinship
  • Mendel’s Laws and some exceptions Meiosis and crossing over

Lecture 2

  • Disease mapping and inheritance
  • Genetic linkage
  • Recombination frequency and linkage maps Mapping traits, genes and diseases
  • Single gene disorders Exome sequencing
  • Autosomal dominant diseases Autosomal recessive diseases

Lecture 3

  • Chromosome aberrations, mechanisms and diagnosis 
  • Numerical and structural aberrations
  • Copy number variation
  • Diagnosis of chromosomal aberrations Chromosomal abnormalities in disease

Lecture 4

  • Sex and sex chromosomes
  • Thomas Hunt Morgan and the white gene
  • Sex chromosome abnormalities Sex linked disorders
  • Sex determination and the Y
  • X inactivation and introduction to epigenetics

Lecture 5

  • Epigenetics, Environment and Disease
  • Genomic imprinting, parental origin effects and imprinted disorders – examples in human and domesticated animals
  • Epigenetic modifications to DNA and chromatin and their function
  • Gene-environment interactions and disease – genetic and non-genetic inheritance

Lecture 6

  • Other genetic diseases and mechanisms
  • Twin studies – monozygotic and dizygotic; concordance and discordance Mitochondrial disease and embryological manipulation
  • Trinucleotide repeat expansion diseases

Lecture 7

  • Behaviour and analysis of genes and variants in populations
  • Hardy-Weinberg equilibrium
  • Calculation of allele-frequencies in populations Founder effects and bottlenecks
  • Sickle cell anemia, malaria and balancing selection Genetic variants in populations
  • Genetic selection and livestock breeding

Lecture 8

Revision session and preparation for exams

 

Further information about the course

Website : http://www.bioc.cam.ac.uk/teaching/first-year/mims

Programme specification/Aims & outcomes : http://www.bioc.cam.ac.uk/teaching/first-year/mims/aims

Course organiser : Chris Howe, Department of Biochemistry

Contributing Depts : To be determined