Next Generation Children’s Project

Next Generation Children’s Project

A Cambridge-led study, also known as the Next Generation Children’s Project, used progressive whole genome sequencing technology to help doctors identify and treat genetic conditions in babies and young children.

Professor Lucy Raymond

The study, led by Professors Lucy Raymond and David Rowitch, which is the largest of its kind to date, took blood samples from 350 babies and children in intensive care units with a variety of different conditions.

It was discovered that one in four babies used in the project had an underlying genetic condition that was then able to be more effectively treated from an early diagnosis. In fact, parents and doctors of these ill children received the test results from this project within two to three weeks on the NHS. The efficiency and accuracy of whole genome sequencing therefore paves the way for this kind of testing to be incorporated into conventional practice. Critically, this breakthrough will also have wider implications for parents who have lost a child for reasons that are not fully understood. It will be able to spare them the pain of not knowing why their child died and may help to inform on decisions about trying for a family again. The next step now is for genome sequencing testing to be offered on a national scale.

Professor David Rowitch

Chief Scientific Officer of NHS England, Professor Dame Sue Hill DBE, who is responsible for the development of genomics across the NHS said: This Cambridge trial is important because not only does it show the potential benefits of whole genome sequencing to significantly improve care for seriously ill children, but it also demonstrates this technology can be delivered as part of a mainstream NHS service.”This project was supported by funds from by the National Institute of Health Research (NIHR), the Cambridge Biomedical Research Centre, the Rosetrees Trust and Isaac Newton Trust and was featured on the BBC.

Ione Goodwin

New Grant Application and Management Process

New Grant Application and Management Process

We’re pleased to announce that we are using Fluent Technology’s Flexigrant software for all new applications and post-grant management. We’re currently accepting applications for small and large project grants. Please download and read the guidelines for the scheme before making an application. All applications must be made through our application portal.

New Genetic ‘Barcode’ Testing Could Improve Bowel Cancer Diagnosis

New Genetic ‘Barcode’ Testing Could Improve Bowel Cancer Diagnosis

A team lead by scientists at the Institute of Cancer Research have developed a new test based on genetic barcoding technology that can differentiate between the five distinct types of bowel cancer.

Dr Anguraj Sadanandam

This test, which sequences 38 genes, takes only a few hours to give a diagnosis, which will represent a significant improvement over existing technologies, which can take months. The test works by isolating and identifying the specific gene activities typical of the different forms of colorectal cancer with extremely high accuracy. If this new and innovative testing method makes it into the clinic it will allow patients to receive tailored treatments at a faster and cheaper rate.
Despite being in the early stages of research, the team is now planning further work to study how best to integrate the application of this diagnostic tool into everyday use. Dr Anguraj Sadanandam, Team Leader in Systems and Precision Cancer Medicine at The Institute of Cancer Research, London, has said: “Our research has brought bowel cancer testing closer to the clinic, where we hope it will soon start making a difference for patients.”
These findings, published in the journal Scientific Reports, were supported by funds from the Rosetrees Trust, the Institute of Cancer Research itself and Cancer Research UK.

Ione Goodwin

Active lifestyles may help nerves to heal after spinal injuries

Active lifestyles may help nerves to heal after spinal injuries

An international team, led by researchers at Imperial College London have shown that leading an active lifestyle may increase the likelihood of damaged nerves regenerating after a spinal cord injury. The study was carried out in a rodent model and found that providing rodents with more space, an exercise wheel, toys and company before an injury helped to ‘prime’ their cells, making it more likely their damaged nerves would regenerate following spinal injury. The team found that the addition of the exercise wheel and other environmental enrichment led to changes in gene expression which reprogrammed nerves making more likely to regenerate. The team identified a key molecule called CREB-Binding Protein (CBP) that may be effectively reprogramming the nerve cells, altering the expression of a number of genes in the cells and boosting their ability to regenerate. Based on this, the team used a recently developed drug that activates CBP to reprogramme damaged nerve cells, mimicking the regenerative effect of environmental enrichment.

Dorsal root ganglion neuron treated with the CBP-activator drug (Credit: Simone Di Giovanni and Thomas Hutson / Imperial College London).

The team says that while the work is still at an early stage the findings open a “realistic pathway” towards testing the links between pre-existing active lifestyle and recovery from spinal injury, and potentially to clinical trials of their drug treatment in human patients. Professor Simone Di Giovanni, from the Department of Medicine at Imperial, whose team led the research, said: “Anecdotal evidence suggests that people with an active lifestyle may recover to a greater degree after spinal cord injury than those who are less active. Our studies support these findings. From what we have seen it’s almost as if the nerve cells are being ‘primed’ for regeneration and growth, which add to this enhanced recovery.The drug treatment that promoted regeneration and recovery in mice and rats after spinal cord injury offers an opportunity to be tested in patients”

The findings, published in the journal Science Translational Medicine was supported by funds from the Rosetrees Trust, Leverhume Trust, and Wings for Life.

Pioneering new treatment for Parkinson’s disease

Pioneering new treatment for Parkinson’s disease

Results from a pioneering clinical trials programme that delivered an experimental treatment directly to the brain offer hope that it may be possible to restore the cells damaged in Parkinson’s.

The multimillion-pound study, was funded by Parkinson’s UK with support from The Cure Parkinson’s Trust and a number of other funders including the Rosetrees Trust. The aim of the trial was to investigate whether boosting the levels of a naturally-occurring protein, Glial Cell Line Derived Neurotrophic Factor (GDNF), can regenerate dying brain cells in people with Parkinson’s and reverse their condition, which is something that no existing treatment can do.

Robotic-assisted surgery was developed to inject GDNF directly into the affected part of the brain with pinpoint accuracy and reproducibility. The study showed that after 18 months there were significant improvements in symptoms compared to scores before they started the study offering encouragement that the treatment may have long-term beneficial effects, however, further studies are need to confirm these findings.

The findings from these trials are have been published in Brain and the Journal of Parkinson’s Disease and will be the feature of a two-part documentary series for BBC Two – The Parkinson’s Drug Trial: A Miracle Cure?

Leukaemia promotes premature ageing in healthy bone marrow cells

Leukaemia promotes premature ageing in healthy bone marrow cells

Leukaemia promotes premature ageing in healthy bone marrow cells

Research funded by the Rosetrees Trust and Norfolk’s Big C Charity has shown that leukaemic cancer cells drive the aging process in healthy bone marrow cells that surround them. The research was led by Dr. Stuart Rushworth from UEA’s Norwich Medical School, in collaboration with the Earlham Institute and the Norfolk and Norwich University Hospital (UK). The prematurely aged bone marrow cells accelerate the growth and development of the cancer cells creating a feedback loop that drive the progression of leukaemia.

Dr Rushworth said: “Our results provide evidence that cancer causes ageing. We have clearly shown that the cancer cell itself drives the ageing process in the neighbouring non-cancer cells and that leukaemia uses this biological phenomenon to its advantage to accelerate the disease.” Importantly Dr. Rusworth’s team were able to confirm that an enzyme called NOX2 drives the aging process, paving the way for new potential therapies. The study was published in Blood and featured on the front cover.