During the last 10 years Cardiff University researchers have developed
and applied a range of genetic and molecular analysis techniques to inform
conservation and biodiversity policy and practice in regions around the
world where specific species and biodiversity are under threat. Genetic
research on orang-utans and elephants in the Kinabatangan Wildlife
Sanctuary in Borneo has guided strategic action plans for these species.
Cardiff's molecular censusing and genetic analysis of giant panda
populations in China have directly informed the strategic relocation of
individual animals into isolated populations in the wild to preserve the
genetic diversity of the species.
Research in the School of Mathematics & Statistics in the University
of Glasgow has been influential in answering a long-standing question:
where do we come from? The fleshing-out of the 'out of Africa' theory has
been the focus of two documentary series, The Incredible Human Journey
and Meet the Izzards, and has generated income for DNA testing
companies in the UK and US by enabling them to offer `deep DNA' tests
revealing one's roots from far back in history. The Incredible Human
Journey aired on BBC 2 in 2009, reaching 10.2 million viewers
altogether, has been watched 100,000 times on YouTube and was broadcast in
shorter format in Australia and Canada before being released as a DVD. Meet
the Izzards was broadcast on BBC 1 in 2013 to over 3 million people.
Impact: Economic: Genomic selection has revolutionised, and is now
standard practice, in the major dairy cattle, pig and chicken breeding
programmes, worldwide and provides multiple quantifiable benefits to
breeders, producers, consumers and animals.
Significance: Increased food production world-wide
Beneficiaries: Breeding companies, primary producers, consumers,
Attribution: Work led by Haley and Woolliams (Roslin Institute now
part of UoE).
Reach: Methodologies applied worldwide in livestock improvement,
and more recently applied in human genetics and plant breeding.
Impact on productivity, the economy and the environment: UK dairy
farmers can select the best animals for breeding using analysis of a wide
range of traits, leading to improved productivity, greater efficiency and
reduced environmental impact, because of UoE research creating a UK
Test Day Model (TDM) and an overall Profitable Lifetime Index
Beneficiaries: The principal beneficiary is the dairy
industry, specifically dairy farmers who are able to generate higher
profits. This has benefits for UK consumers and the economy by keeping
milk prices lower. The reduction in greenhouse gas emissions associated
with more efficient dairy farming practices has global benefits.
Significance and Reach: The genetic evaluation system enabled by
the PLI and TDM has resulted in a financial benefit to the UK dairy
industry of an estimated £440M over the period 2008-2013.
Attribution: The quantitative genetic research was led by Dr Sue
Brotherstone and Professor Bill Hill of the School of Biological Sciences,
UoE, with colleagues at Roslin Institute (UoE; UoA6) and SRUC (also
returned with UoE in UoA6) as described below.
Research carried out by the University of Southampton into the genetic
causes of diseases, and the gene mapping techniques and applications
derived from this research, has benefited patients worldwide through
improved prediction, diagnosis and treatment for common diseases with a
complex genetic basis. A particularly striking example is age-related
macular degeneration which is a common cause of blindness. Commercially,
the research provides cost-effective strategies for genotyping DNA
samples, and marker-based selection strategies for economically relevant
animal species, such as cattle. The work underpins the development of the
personal genomics industry, which specialises in individual genetic risk
Foal Immunodeficiency Syndrome (FIS) is an emerging fatal inherited
equine disease which has caused much concern in the equine industry.
Research at the University of Liverpool (UoL) into the genetic basis of
this disease has identified the genetic mutation and developed a carrier
test which led to equine population screening to understand the spread of
this disease (>40% adult carriers in one breed, Fell ponies) and
provided a tool for vets and owners to design selective breeding
programmes to eradicate the disease. Since the introduction of the test in
2010, the number of cases has drastically fallen (only 1 detected in any
breed in 2012) and FIS spread into other breeds is now considered most
Work by the University of Huddersfield's Archaeogenetics Research Group
has been at the
forefront of developing mitochondrial DNA as a tool for reconstructing the
dispersal history of
mankind, from a new model of the expansion of modern humans out of Africa
to re-evaluations of
the settlement history of Europe, Asia and the Pacific. Pivotal in the
emergence of commercial
genetic ancestry testing, this work generates immense public interest and
opportunities for broad engagement. It has provided an expert basis for TV
and radio programmes,
featured widely in the mainstream press and helped the Human Genetics
guidelines for the genetic ancestry testing industry.
Genetic tests introduced by insurance companies for dental healthcare in
the USA are underpinned by leading research on the interleukin-1 cytokine
system carried out at the University of Sheffield. Research in Sheffield
has led directly to the development of these tests and has had [text
removed for publication]. Implementation of the PSTf0d2 test by Delta
Dental (largest dental insurer in the USA) stratifies patients at risk of
periodontitis, has informed USA government policy on the use of genetic
data in healthcare and has led directly to new dental policies for adults
based on personalised IL-1 genetic data. The health value of this is $4.8
billion/year in the USA.
As a result of research from Oxford's Professor Andrew Wilkie, accurate
genetic diagnostic tests
are now available for over 23% of all craniosynostosis cases nationally
and internationally, leading
to improved family planning and clinical management of this common
condition worldwide. The
premature fusion of cranial sutures, known as craniosynostosis, is a
abnormality that occurs in 1 in 2,500 births. Over the past 20 years, the
University of Oxford's
Clinical Genetics Lab, led by Professor Wilkie in collaboration with the
Oxford Craniofacial Unit,
has identified more than half of the known genetic mutations that cause
craniosynostosis and other
malformations of the skull.
The effects of accidental salmon farm escapes, intentional releases of
non-native salmon and
trout, and stocking of fertile farm-reared trout, on the genetic makeup,
fitness and long-term
viability of wild populations has been a matter of increasing concern over
the past two decades.
Ferguson and Prodöhl's group demonstrated that offspring of farmed, first
and second generation
hybrid and backcrossed salmon and trout showed reduced survival compared
with wild native fish,
and that repeated escape/introduction events can cause a reduction in the
biological fitness of
vulnerable wild populations leading to reductions in numbers and
potentially to their extinction.
These findings led directly to changes in regulations and guidelines by
relevant major stakeholders
including the Environment Agency (England & Wales), Wild Trout Trust,
North Atlantic Salmon
Conservation Organisation, World Wildlife Fund, and governments in Europe
and North America.