Approximately 1 in 100,000 people in the UK suffer from a rare genetic condition that leads to the development of multiple, disfiguring, skin tumours called cylindromas on the scalp. The condition is caused by an inherited mutation in the CYLD tumour suppressor gene.

Up to 1 in 4 affected patients require complete scalp excision to control tumour burden. These patients also develop tumours on the body that require surgery when they become painful or impair function due to their size.

Researchers at Newcastle University and the Institute of Cancer Research, London, conducted whole genome molecular profiling experiments that led to the discovery of an attractive molecular target in these skin tumour cells, named Tropomyosin kinase (TRK). Now, a team led by Dr Neil Rajan at Newcastle University will conduct a trial of the topical TRK inhibitor CT327, developed by a European biotechnology company known as Creabilis, in patients with CYLD genetic mutations. The team hopes to demonstrate that delivering a TRK inhibitor to patients with this inherited skin tumour may represent a safe and feasible treatment for early tumours and reduce the need for surgical interventions.

Osteoporosis is a condition in which patients have too little bone, and so are more prone to suffering fractures, most commonly in the spine, wrist and hip. These lead to pain and deformity and often death. Osteoporosis affects 1 in 2 women and 1 in 5 men over age 50 years.

The treatment of fractures will cost £2 billion in UK by 2020. Vertebral fractures are the most common fractures in osteoporosis, and if present indicate that the patient is at significantly increased risk of future fractures and should be treated. However, over 50% of vertebral fractures are not associated with symptoms and so their presence may not be suspected; and are often not reported if present on various imaging techniques. Professor Tim Cootes and colleagues at The University of Manchester have developed world-leading technology for locating and analysing bones in medical images. In collaboration with Optasia-Medical Ltd and Central Manchester University Hospitals they will develop a fully automated computer tool for identifying vertebral fractures on X-ray images. This will be designed to be easy to use and will be suitable for adoption within the NHS. They will demonstrate the tool’s performance by installing a system in an NHS radiology department and testing it on routinely collected clinical images. By identifying subjects with vertebral fractures who would benefit from referral for further assessment for osteoporosis the system should ultimately reduce the number of fractures, including the numbers of potentially fatal hip fractures.

Women have ultrasound scans of their baby in pregnancy to check for structural abnormalities (such as a heart defect). If a problem is found, women are offered prenatal testing to check for chromosomal abnormalities in the baby, such as Down’s syndrome. This helps to predict the outcome for the child.

The chromosomes in our cells consist of strands of DNA which encode all the genes. Standard genetic testing detects large chromosomal changes that can be seen down a microscope. In some centres additional testing can detect smaller chromosomal changes. Dr Matthew Hurles at the Wellcome Trust Sanger Institute and colleagues plan to look in the greatest possible detail, down to the level of individual building blocks of DNA, to examine the genes.

In this study, as the amount of information generated by this testing is vast and the interpretation time-consuming, results cannot be given during the pregnancy. If a genetic reason for the abnormal scan findings is found, this information would be given to parents after pregnancy. This could provide important information about the health of the child or implications for future pregnancies. This research will allow the team to discover new genes responsible for causing abnormalities and, if appropriate, to develop methods for speedy feedback of important information during pregnancy in the future.