CHAPTER 5 HUMAN GENETICS

The understanding o human genetics dates back to Charles

Darwin’s (1809–1882) On the Origin of S pecies (1859), later
urther explained by Gregor Mendel’s (1822–1884) principles
o inheritance and mutations. The most exciting modern
development in genetics was the Human Genome Project,
which mapped the complete set o genetic codes stored as
DNA sequences in the whole 23 chromosomes o the human
cell nucleus. This project started in 1990, and was originally
sponsored by the USA government, directed through the
O ice o Biological and Environmental Research in the US
National Institutes o Health and the National Human Genome
Research Institute. Most o the publically sponsored sequencing
was per ormed in universities rom the USA,
the UK, J apan, France, Germany and Spain – the Human
Genome Sequencing Consortium.
The Human Genome Project published the working dra t
o the human genome in 2000; the complete genome was
published in 2003. A parallel project, privately sponsored by
the Celera Corporation – Celera Genomics – was started in
1998 using some o the data already obtained by the Human
Genome Project. This competition speeded up the work o
mapping the human genome, which has now become an essential
component o medicine.
The ‘genome’ o individual human beings has unique
characteristics. Even identical twins have small di erences.
Together with understanding molecular and cellular biology,
medical genomics will extend our understanding o disease
processes and aid the development o preventive measures,
diagnosis, prognosis and therapeutic strategies. The proposal to
sequence the genome o all bacteria, or example,
will revolutionise the management o in ectious diseases. It
behoves all budding physicians to really study modern genetics and
to ollow the ongoing research.

CHAPTER 6 PATHOLOGY AND

IMMUNOLOGY

Pathology and immunology are essential or understanding

disease processes and to enable the clinician to ormulate
sensible diagnostic and therapeutic decisions. In ectious
diseases and the body’s response to them – immunology –
are discussed. Disorders o the immune system, including
autoimmunity and hypersensitivity are also discussed. In
these conditions, it is thought that there is a de ect in the
genetic regulation o the immune response. The in lammatory.
response underpins the body’s de ence mechanisms and
needs to be ully understood.
Immunology is ollowed by the pathology o neoplasia –
cancers –– which cause about 25% o all deaths in the UK.
The pathology o common degenerative diseases is discussed in the
chapters on systems o the body. Once again,
molecular and cellular biology and medical genomics orm
the basis or understanding these processes.