Genetics - The fight against pollution, disease and crime
Geneticists Work Towards a Better Quality of Life
“At the University of Leicester we are at the forefront
of research in many areas of genetics, especially those that affect society
and human welfare.
It was here in September 1984 that Professor – now Sir
– Alec Jeffreys discovered DNA fingerprinting, which has had a worldwide
impact on both science and society, including the areas of crime detection,
paternity cases and historical identification.
While there may yet be further applications in forensic
analysis, work has now moved on to the development of new methods to study
heritable changes in DNA, such as looking at the evolution of human DNA in
real time, an exciting, revolutionary prospect.
We are also investigating the impact of environmental agents on
mutation in situations such as those following the Chernobyl disaster of 1986,
while on a global front our research is informing international
radio-biological protection policy. Other
research areas where we are national or international leaders include:
Behavioural genetics - how our
biological clocks work, for instance when we are affected by jet lag or shift
Studies on the Y chromosome
valuable insights on evolution theories and population histories.
Medical Genetics -
the role of DNA in inherited disorders, such as deafness, birth defects
and blood disorders, leading to new diagnostic tests and enhanced patient
Genome sequencing and analysis
was the first eukaryotic cell (ie a cell that can be compared to human cells)
to have its genome sequenced and members of the Department played leading
roles in this international project.
This has led to new insights into genome organisation in general and
provided excellent models for aspects of
Another genome sequencing project in which members of the Department of
played a driving role is that of campylobactor, a bacterium that causes
food disease - unpleasant
enough in the West but a major source of concern in the developing world.
Something we value is the synergy between research and
teaching. Our fifteen senior members of
staff are all researchers of national and international standing and we all
teach. So our undergraduate and
postgraduate students and young scientists enjoy the experience of rubbing
shoulders with world leaders as they are taught, and work with them in the
We also work hard as a department to raise public
awareness of science, through such outlets as the BA Festival of Science –
recently held at the University of Leicester. As well as holding adult
education courses, our staff go into schools and run taster courses at the
University for school and college students. Members of the Department are
involved in an extensive programme of radio/TV appearances and science
commentaries in the popular press. This
is important, because Genetics impacts so much on everyone’s lives and has
such broad applications.
The Department of Genetics lies at the heart of a much
wider network of scientists in the University who use genetics in a wide range
of biological and medical research. We
have recently established an Institute of Genetics here at the University to
promote interaction and provide a network structure to strengthen our already
formidable record of genetic research.
At the heart of modern biology, genetics impacts on many
aspects of human health, welfare and daily lives and is clearly a priority for
government and industry alike. Our
reputation is internationally acclaimed, and we see the Institute as an
opportunity to open up new initiatives, attract increased funding and
collaborations and to enhance the education and training we can offer the next
generation of scientists.”
Some of the key areas of our research which impact on the
health and welfare of society are expanded below.
The Chernobyl Legacy
In 1986 the nuclear accident at Chernobyl in the Ukraine
contaminated the surrounding regions – and beyond - with radiation.
The world waited with baited breath to see what the long-term effects
of this would be. Geneticists at the
University of Leicester began to investigate, and their work continues today.
In the knowledge that predicting the genetic consequences
for humans of exposure to ionising radiation and chemical mutagens has become
one of the most important issues of human genetics, Dr Yuri E Dubrova and
Professor Sir Alec Jeffreys developed a new system for monitoring
radiation-induced mutation in the germline of mammals.
Tests have shown for the first time that those families
from Belarus and Ukraine who were exposed to the Chernobyl radioactive
contamination, and families from Kazakhstan exposed to the fallout from
nuclear weapon tests, are significantly more likely to pass on mutations to
their children. Among the wider
applications of this research is the suggestion that their methods can also be
used where there has been exposure to chemicals.
Their research continues, including looking at the
genetic risks of ionising radiation for humans from accidental or occupational
exposure and radiotherapy. In the long
term the hope is to be able to develop recommendations for establishing a
Re-setting the Biological Clock
The major industrial accidents of the last century,
Chernobyl, Three-Mile-Island and Bhopal, were all caused by human error during
shift work – 25 per cent of the workforce in the industrial world works
In addition, sleep problems, particularly in older
people, can lead to depression, and anyone who flies across time zones
understands the misery of jet lag.
On the face of it there may not appear to be a link
between all this and the fruitfly but, as research by Professor C P Kyriacou
at the University of Leicester Department of Genetics and Dr E Rosato in the
Department of Biology shows, genetically speaking, humans and fruitflies are
more alike than you might imagine.
The discovery of clock genes in the fruitfly, Drosophila,
led to the identification of these same genes in humans, and in turn to the
development of therapies that attempt to alleviate some of the medical
problems associated with issues such as shift work, jet lag and insomnia.
Some therapies already available include the use of
melatonin for jet-lag and bright light to
counteract Seasonal Affective Disorder (SAD). The
importance of this research will increase in the future, with the growth of
airline – and even space – travel and the acceptance of the 24-hour
Like Father, Like Son
As part of his research into Y chromosomes, human
evolution and genealogy, Dr Mark Jobling, Lecturer and Wellcome Trust Senior
Research Fellow in the University of Leicester Department of Genetics, is
exploring the relationship between surnames and genetic structure.
Most people get their surnames from their father, and all
males get a section of their genetic material (DNA) from their father, too.
This is the Y chromosome, responsible for making males.
Females have two X chromosomes, while males have one X and one Y.
Dr Jobling’s research aims to find out how different
kinds of Y chromosomes relate to different surnames – whether all males who
share a particular surname also share a kind of Y chromosome and therefore a
common ancestor, and what can be learned from this about the history of
This is not only of interest to those tracing their
family trees, but it also has forensic implications.
There may come a day when samples taken from a crime scene could
suggest a surname. In the field of
medicine, too, surnames are often used to look at population structure and
predict the risk of diseases such as cancers and cardiovascular disease.
Dr Jobling’s work may be able to put these studies on a
sounder scientific basis by using modern molecular genetic methods to test
some of the underlying assumptions.
Hopes for Medical Breakthrough
Significant progress in identifying the genetic structure
of diseases, including studies by Professor Richard Trembath at the University
of Leicester, has generated new ways of identifying people who are ‘at
risk’, as well as potential targets for therapeutic developments.
Over the past three years Professor Trembath and others
in the field have identified genes responsible for a range of medical
conditions. While not all of these will
lead to ‘miracle cures’, they do promise significant opportunities for
families carrying genetic disorders.
One such condition, primary pulmonary hypertension (PPH)
is a devastating condition causing a substantial increase in the blood
pressure in the supply to the lungs. The
consequences are a markedly reduced capacity for the transfer of oxygen to
supply the body’s needs, together with substantial strain on the right side
of the heart, typically leading to heart failure and early death.
It is a sobering thought that one of the mainstays of treatment
includes heart-lung transplantation.
A proportion of patients have a family history of the
disease and Professor Trembath’s group working in Department of Genetics
recently identified the gene responsible. Demand
for tests for this gene has been high. Even though there is as yet no treatment for the condition, the
knowledge that they have a predisposition to it helps people to normalise
Using Yeast as a Model and
The Department is also at the forefront of research using
the brewer’s yeast Saccharomyces cerevisiae, the model of choice for
basic cellular processes. The sequencing of the genome of yeast and was the
test case for the sequencing centres completing the human genome project.
Members of the Department were involved in that project and continue to be
involved in the worldwide efforts of determining gene function in this
post-genomic era. For example,using the powerful technologies of modern yeast
molecular genetics we are investigating cellular pathways leading to the
production of essential B-vitamins. It may become possible to produce
B-vitamins for food and therapeutic use by natural fermentation routes rather
than the current chemical synthesis.
Yeast is also turning out to be an excellent model for some of the most important pathogens affecting human society to-day. The department is involved in applying those lessons learned in yeast to the fungal pathogen Candida albicans ( a major source of serious infection particularly in immune compromised individuals) and Pnuemocystis carinii ( the major cause of pneumonia in AIDs patients).
Professor Ed Louis, Professor of Genetics and
Co-ordinator of the newly-established University of Leicester Institute of
Genetics, sees a broad sweep of medical conditions that may be better
understood in the future, using genetic techniques.
Initial benefits may simply be that we gain a better understanding of specific diseases such as the biochemical defect involved in
genetically predisposed forms of cancer.
Looking further ahead, cancer drugs will be tested in
combination with anti-telomerase therapies (telomerase is an activity within
cells which gives cancer cells their immortality) ultimately leading, perhaps,
to the first ‘magic bullet’ against the most resistant tumours.
New prophylactic and therapeutic drugs will be monitored
for a variety of diseases – many of which are developing resistance to
current drugs. As new therapies are
developed and diseases become increasingly rare the human life span will
increase, and while Professor Louis does not expect people to live beyond 120
years, he does hope that more people will approach that age enjoying a high
quality of life!
War Against Food Poisoning
The microbial safety of food is an issue continually in
the public gaze. Now, using genomic
techniques it will be possible to design approaches to reduce the incidence of
Some of the most familiar such diseases include Salmonella
and E.coli 0157, and Cryptosporidium of summer floods fame. Others are
less well-known, though they may be much more frequent, most notable is Campylobacter,
the most common cause of food poisoning across the world.
Campylobacter lurks harmlessly in the intestine of most birds
and animals, and when meat is undercooked or foodstuffs in fridges are
cross-contaminated, it enters the human intestine causing cramps and
Professor Julian Ketley, Professor of Bacterial Genetics
at the University of Leicester, is using the whole genome to look for clues in
the genetic structure of campylobacters to
determine how the disease is caused. Some questions he is asking include: What
happens if we stop a particular gene working? When
exactly are the Campylobacters’ genes switched on and in response to what?
He believes that ending the misery and negative economic impact of diarrhoea is one important scientific goal for genome research on Campylobacter. “For those thousands of us doing battle with Campylobacter,” he says, “exciting new developments in genetics will speed us towards winning the war.”
Last updated: 18 November 2002 10:55
Created by: Rachel Tunstall
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