Skip Navigation Links
DH

Future Solutions In Progress


Round 6: Theme menu with 5 topics / areas of special interests

  • Clinical applications of genetics
  • Early detection and diagnosis of chronic illness or long term conditions
  • Minimising the impact of trauma and serious injury
  • Informing clinical management through software-based analysis of complex datasets
  • Repurposing of medicines and medical devices

Round 6 Projects:

 

Translation of non-invasive prenatal diagnosis (NIPD) for selected single gene disorders into a clinical setting
Translation of non-invasive prenatal diagnosis (NIPD) for selected single gene disorders into a clinical setting
Principal Investigator:  Dr Stephanie Allen
Organisation: Birmingham Women's NHS Foundation Trust - West Midlands Regional Genetics Service
Start Date 1st July 2013
End Date: 30th June 2016

View Abstract

Current prenatal genetic testing is by amniocentesis or chorionic villus sampling which each carry miscarriage risks. Recently developed tests, called “non-invasive” prenatal diagnosis (NIPD), do not have miscarriage risks. These are possible since the discovery that there is a small amount of a baby’s genetic material, known as free fetal DNA, present in a pregnant mothers blood. Tests for some genetic disorders, such as the muscle disorders Duchenne and Becker muscular dystrophies are currently being developed. However because there are thousands of different genetic disorders, many extremely rare, it is challenging to make these tests available to a wide range of different families.

Scientists must show that the NIPD tests are accurate on stored blood samples for a range of conditions and then show that the tests are possible in the antenatal clinic and provide the same accurate results. Once proven the tests can be considered by the UKGTN (UK Genetic Testing Network) for implementation into routine NHS service. This project led by Dr Stephanie Allen of the West Midlands Regional Genetics Service aims to accelerate the safe transfer of genetic research into improved patient care for many different genetic disorders. Removing the miscarriage risk with the introduction of NIPD will increase the acceptability, and therefore availability of prenatal genetic testing for many couples.

Translation of non-invasive prenatal diagnosis (NIPD) for selected single gene disorders into a clinical setting
Virtual coronary physiology: an angiogram is all you need
Principal Investigator:  Dr. Julian Gunn
Organisation: University of Sheffield
Start Date 06th September 2013
End Date: 05th September 2016

View Abstract

Disease inside the heart’s arteries kills more people in the UK than anything else. Dr Gunn and his team at the University of Sheffield have developed a computer system called 'VIRTU', which predicts blood pressure changes inside coronary arteries.

This is important because doctors make better decisions regarding when and how to treat patients with coronary artery disease if they have these blood pressure measurements. Currently, doctors have to insert a metal wire inside the heart to measure artery pressures. This is time-consuming and requires special equipment, staff and medicines. Although this invasive technique saves lives and money, more than 95% of patients do not receive the procedure and thus do not get the benefits that it can provide.

VIRTU provides a solution to this problem since it only needs X-ray pictures and does not require any wires, drugs, or additional time, equipment or staff. This project aims to improve the speed and accuracy of VIRTU and test it in people with more complicated coronary disease so that eventually it can be used in all patients. The research will make VIRTU 'patient-ready' and will deliver all the advantages of the current invasive technique (i.e. reduced deaths, heart attacks and cost) whilst being less invasive and usable in 100% of patients.

Translation of non-invasive prenatal diagnosis (NIPD) for selected single gene disorders into a clinical setting
Comprehensive molecular diagnostics for inherited cardiac conditions
Principal Investigator:  Prof Stuart Cook
Organisation: Imperial College London
Start Date 01st April 2014
End Date: 31st March 2017

View Abstract

Some diseases of the heart run in families (inherited cardiac conditions). In the UK they are most common cause of sudden death in the young and a major cause of death and disability across all age groups.

Although we know a lot about the genes that cause these diseases and healthcare experts around the world advise that genetic test should be used routinely to guide healthcare decisions, they are in fact used rarely and inequitably used for inherited cardiac conditions. A research group headed by Professor Stuart Cook at Imperial College London, working with Colleagues at the Royal Brompton and Harefield NHS Trust, will use cutting edge sequencing technology to test all the known genes that cause these diseases in a single test. The test will be provide faster, more affordable and far more comprehensive and accurate genetic testing than currently available and will change the way we treat patients and their families.

Translation of non-invasive prenatal diagnosis (NIPD) for selected single gene disorders into a clinical setting
Translation of whole genome sequencing into clinical practice
Principal Investigator:  Dr. Jenny Taylor
Organisation: University of Oxford
Start Date 01st October 2013
End Date: 30th September 2016

View Abstract

Genetic diseases occur when changes in a particular gene (called mutations) disrupt its normal function. There are many diseases that are caused by mutations in an individual’s DNA sequence.

However, our knowledge of the causative genes is often incomplete, and many patients remain undiagnosed even when all possible tests have been performed. Furthermore the testing process is slow since genes are often tested one at a time, for technical and economic reasons.

A research group headed by Dr Jenny Taylor at University of Oxford is aiming to improve this situation, by working out how new DNA sequencing technology, which can test an individual’s whole DNA sequence at once, can be used for genetic testing in the NHS. This should lead to much higher rates of success in diagnosing genetic conditions. However, there are many technological hurdles to overcome in the collection and use of this ‘whole genome’ sequence data, and the way in which genetic testing is conducted in the NHS will need to adapt. Their goal will be to ensure that this new sequencing technology is rolled out in the NHS in a socially responsible manner so that any patient with a genetic disease can benefit, providing a benchmark for the NHS more widely, and other countries.