Lecture 1. Natural history of the human genome

General aspects of the genome
What’s in a gene
Repetitive DNA
Tandemly repetitive sequences
Dispersed repetitive sequences
Chromatin
Gene expression
Transcription
RNA processing
Translation

Lecture 2. The mechanisms of mutation: how the human genome changes

Spontaneous mutations
Mutations arising during DNA replication
Effects of changes in base sequence on gene expression
Mutation by transposable elements
Mutations that are errors in recombination
Chromosomal mutations
Induced mutations
The human mutation rate

Lecture 3. Genetic diseases: the consequences of mutation

Mendelian inheritance of autosomal genes
Mendelian inheritance of X and Y chromosome genes
From Mendel to genes
Linkage analysis
Positional analysis
On beyond Mendel: complex inheritance
Genomic imprinting

Lecture 4. The human genome and medical practice

Genetic screening
Newborn genetic screening
Adult genetic screening
Ethical and legal aspects of genetic screening
Therapy of genetic disorders
Nutritional therapies
Protein replacement therapies
Cell and tissue replacement therapies
Gene therapy
Pharmacogenomics

Lecture 5. The mitochondrial genome and mitochondrial disorders

General aspects of mitochondrial function and genetics
Mitochondrial genetic diseases
Disease attributable to mutations in mitochondrial DNA 
Mitochondrial diseases and nuclear DNA mutations
Mitochondria and aging
Therapy of mitochondrial diseases

Lecture 6. The genetic basis of cancer

Oncogenes
Tumor suppressor genes
Loss of growth control
The cell cycle
Programmed cell death
Sources of genomic instability
Epigenetic changes in cancer

Lecture 7. The human genome and developmental biology

Pre-natal developmental genetics
Transcription factors and early development
Organogenesis
Complex inheritance of developmental abnormalities
Genomic disorders
Genetics of aging
A look ahead