A genetic study part-funded by NIHR Cambridge BRC has looked at how cancers arise in children who are predisposed to developing the childhood kidney cancer, Wilms tumour, which could help anticipate the development of tumours before they fully form.
About 30 per cent of children who develop Wilms tumour are born with inherited genetic changes that increase their likelihood of developing this cancer. The study, published in Cancer Discovery, suggests that these inherited genetic changes don’t just increase the risk of cancer but also affect how these tumours develop – including how well they respond to certain treatments, and whether the child has a higher risk of developing secondary cancers later in life.
Professor Sam Behjati, co-senior author
The research team indicated that different genetic predispositions give rise to different tumour development pathways and kidney structures, and identified those that restrict the growth of tumours. They also found that Wilms tumours develop differently in children that are born without genetic predispositions.
Their findings suggest that tailoring treatment and screening programmes to a child’s genetic makeup could improve the quality of care. In the future, this research could lead to ways to guide treatment and develop new therapies based on certain genetic changes.
“Our research illustrates the power of collaborative genomic research to answer important clinical questions. At the moment, we treat all children with a predisposition the same, meaning that some children get too much and others too little treatment.
“Our findings indicate that we may be able to personalise treatment on the basis of genetic information. Moreover, since we now know the precise sequence of genetic changes that lead from predisposition to cancer, we may be able to screen for tumours more effectively and even begin to entertain the possibility of prevention.”
Professor Sam Behjati, co-senior author at the Wellcome Sanger Institute and Cambridge University Hospitals NHS Foundation Trust
Children with Wilms tumour are currently only screened for genetic predisposition if they show specific features, such as tumours in both kidneys. Treatment for these children has to balance removing tumours and reducing the risk of secondary tumours later in life, while preserving as much kidney function as possible.
Strategies to spare normal kidney tissue include chemotherapy, certain types of surgery, and extended courses of postoperative chemotherapy, along with close surveillance for recurrence. All of which are demanding for the patient and their family. Using genetics to inform treatment could allow some children to avoid these interventions if their genes show they are unlikely to develop subsequent tumours.
The team showed that tumour development differed in children with a genetic predisposition. This depended on which gene was affected and when this gene was activated during development in the womb, known as its developmental timing.
Different genetic predispositions to Wilms tumour led to specific sequences of DNA changes during childhood that eventually caused tumour formation. These DNA changes are known as driver mutations, some of which increased the children’s risk of secondary cancers as well as Wilms tumour. In particular, genetic changes in genes – WT1 and TRIM28 – resulted in the accumulation of additional driver mutations in specific pathways, which could be targeted in future drug development.
Genetic predisposition also impacted the tissue architecture of the kidneys, which could help explain why some children develop non-cancerous kidney growths before cancerous tumours.
Overall, the findings indicate that predisposition may dictate how Wilms tumour develops, with specific patterns depending on the original genetic change. Researchers suggest that in the future, it could be possible to tailor treatment and screening programmes to the type of genetic predisposition a child has, to ensure they are receiving the most effective care.
https://cambridgebrc.nihr.ac.uk/wp-content/uploads/2025/01/Sam_Behjati_4929.a2862bcc.fill-480x480-1.jpg480480Nicola Westhttps://cambridgebrc.nihr.ac.uk/wp-content/uploads/2024/04/Cambridge_BRC_NIHR_logo.pngNicola West2025-01-29 13:28:022025-01-29 14:52:37Genetic study part-funded by NIHR Cambridge BRC helps predict childhood kidney cancer development
“When it’s too noisy you can get overwhelmed and zone out. It can make socialising with friends very difficult and can be incredibly isolating.”
Kaitlyn is a 20-year-old actor and theatre student from London who was born profoundly deaf. She’s had cochlear implants to help with her hearing since she was three but the implants are far from a complete fix.
She explains: “Cochlear implants are amazing but I don’t hear what a hearing person hears. I have to work incredibly hard to lip read or find a visual way of communicating, such as British Sign Language.”
Kaitlyn is now hoping to help a generation of D/deaf children and young people thanks to her involvement in an innovative new virtual reality medical trial.
“It can be challenging growing up being deaf. Lots of everyday situations can be a struggle, from playing sport to crossing the road.
“Even when you’ve had positive experiences at school with lots of support and deaf friends, conversations can be difficult and exhausting. You can’t work out where voices are coming from and by the time you’ve found who’s speaking you’ve missed the first half of what they said.
“With cochlear implants, you’re constantly hearing new sounds that you either haven’t noticed before or just haven’t been tuned into. It can be quite scary hearing a new sound and thinking ‘should I be worried or is that okay?’ Finding ways to improve your ability to identify sounds is so important.”
In an effort to improve the lives of children and young people with similar hearing difficulties, Kaitlyn has been involved in testing and developing a Virtual Reality gaming trial that is intended to help use both ears (BEARS) together, to train listeners to better locate sounds. This is something that children and young people with cochlear implants find difficult. The BEARS suite of games includes a variety of immersive, 3-D sound and vision experiences, such as target practice, music games, and serving customers in a busy cafe.
Funded and supported by the NIHR and led by Deborah Vickers (pictured, top right) from the University of Cambridge and Dan Jiang from Guy’s and St Thomas’ NHS Foundation Trust, the project brings together speech and language therapists, surgeons, audio engineers, audiologists and children and young people using cochlear implants to create games.
Kaitlyn’s involvement began at 18 years old when she saw a flyer about the project while attending an appointment at Guy’s and St Thomas’. Intrigued by the potential of VR, she volunteered.
“My brother played VR games at home so I thought it sounded exciting and wanted to give it a go.”
She explains: “I played the games at home every week for three months and afterwards I noticed my sound location skills had improved – even after this short period of time. I fed back on the games so they could be developed further to make them as user friendly for children and young people as possible.”
Over 160 children and young people are currently enrolled onto the trial at sites in Belfast, Birmingham, Bradford, Cambridge, Kilmarnock, London, Manchester, Middlesbrough, Nottingham, Oxford and Southampton.
Jameel Muzaffar, NIHR National Specialty Lead for Ear, Nose and Throat Surgery & Audiology says: “Cochlear implants, while life-changing, do not restore natural hearing. They act as an electronic ear and send electrical pulses to the hearing nerve via electrodes placed inside the ear. But children and young people still struggle with combining sounds from both ears and listening skills don’t just come to you – you have to sit down and improve them.
“The BEARS project represents a major step forward in addressing these issues. By offering a tailored, interactive, and patient-centred approach, the BEARS VR-based training games have the potential to transform spatial hearing skills, improve understanding of speech in noisy conditions and enhance quality of life for young cochlear implant users.”
From a personal perspective, Kaitlyn sees the potential for the trial to help children and young people long into the future. “The games are not only fun for children and young people to play but it could help with real life skills so that when they are older, they feel more confident and won’t feel like they’ve been held back. They’ll feel like they managed to achieve something in the game so they can feel confident doing it in real life too.
“Living with a cochlear implant can be a struggle and so anything that could help make children and young people’s lives with them a little easier is fantastic.”
As 2024 draws to a close, we’ve put together a snapshot of some of our key research stories and events that we hosted over the year.
A massive THANK YOU to all our researchers who have carried out key research and also to the patients and members of the public who have supported our PPIE activity over the past 12 months – making research better and more relevant to you.
Click on the image below to find out more about the discoveries, trials and successes over 2024.
A very happy and peaceful festive season to all our colleagues, networks and supporters!
https://cambridgebrc.nihr.ac.uk/wp-content/uploads/2024/12/2024-news-round-up-seasonal-thank-you-card-IMAGE-scaled.jpg25601810Jesshttps://cambridgebrc.nihr.ac.uk/wp-content/uploads/2024/04/Cambridge_BRC_NIHR_logo.pngJess2024-12-17 14:43:222025-01-10 18:10:59Looking back over 2024: a year in highlights
Occupying top spot is the research paper Mendelian randomization for cardiovascular diseases: principles and applications by authors Stephen Burgess, Adam Butterworth and collaborator Susanna Larsson. Their review describes the principles of the Mendelian randomization design and its applications in cardiovascular epidemiology, explaining the jargon, assumptions, advantages, caveats and limitations.
In fourth place is SCORE2-Diabetes: 10-year cardiovascular risk estimation in type 2 diabetes in Europe, from researchers Lisa Pennells, Stephen Kaptoge and Emanuele Di Angelantonio.
This is a new risk calculator that will help to identify people with type 2 diabetes more accurately, according to country of residence, who are at high risk of developing heart and circulatory diseases in the next 10 years.
Director of the NIHR Cambridge BRC, Professor Miles Davies, said: “This is a major achievement, especially given the translational relevance of both Mendelian randomisation (particularly for drug development and repurposing) and SCORE2-Diabetes. Congratulations to all investigators involved!”
https://cambridgebrc.nihr.ac.uk/wp-content/uploads/2024/12/heart-rate.png512512cbrcprodhttps://cambridgebrc.nihr.ac.uk/wp-content/uploads/2024/04/Cambridge_BRC_NIHR_logo.pngcbrcprod2024-12-11 16:43:262025-01-10 17:49:19NIHR Cambridge BRC-funded research is top-five most-cited in world-leading general cardiology publication
WHERE: Hexagon Room, Frank Lee Centre, Cambridge Biomedical Campus
Inflammation is an essential part of how we fight off infection. However, sometimes it persists even after an infection clears, happens in the wrong place or kicks off even without any signs of infection – and results in a range of health conditions that reduce quality of life for patients.
Join us for an hour of talks either in the afternoon (4-5pm) or evening (6-7pm) on the latest developments in inflammation research at NIHR Cambridge BRC and take the opportunity to chat with local researchers about their research.
Whether you choose to come for the afternoon or evening talks, you are welcome to spend the hour from 5-6pm chatting to our researchers about their work and view the research posters on display. Why not vote for your favourite poster while enjoying some light refreshments?
Our speakers
Dr. Bina Patel, Clinical Research Fellow, Department of Clinical Neuroscience at the University of Cambridge
Prof. Menna Clatworthy, NIHR Cambridge BRC Theme Lead for Immunity, Inflammation and Transplantation and Professor of Translational Immunology, University of Cambridge
Prof. Clare Elizabeth Bryant, Professor of Innate Immunity, Department of Medicine at the University of Cambridge
Book your preferred session
You only need to book one session to attend the talks and poster exhibition, as the talks are the same for the afternoon and evening slots: and you are welcome to stay for some or all of the hour (5-6pm) between talks to chat to researchers, view the posters and enjoy light refreshments.
If you have any questions either before or after you book your ticket, please contact Georgina Norris via email: gan23@cam.ac.uk.
https://cambridgebrc.nihr.ac.uk/wp-content/uploads/2024/09/inflammation-image.jpg470940cbrcprodhttps://cambridgebrc.nihr.ac.uk/wp-content/uploads/2024/04/Cambridge_BRC_NIHR_logo.pngcbrcprod2024-09-05 10:30:372025-01-10 18:05:49Free public event on our latest inflammation research
When Mike Willis retired four years ago, he was looking forward to learning new skills and exploring new opportunities.
But a diagnosis of Motor Neurone Disease (MND) in 2022 forced Mike to revisit those carefully laid-out retirement plans and change direction. Read his blog to find out more!
“Remain mentally active.” That was the one thing I promised myself when I received my diagnosis of MND.
That was a particular challenge – I’m not a fan of crossword puzzles or anything like that.
But for the past ten years or so, I’ve been involved in Public and Patient Involvement (PPI) in clinical trials – work that I’ve been able to continue post-MND-diagnosis.
And I think it’s definitely helped keep the old grey matter ticking over!
My first foray into the world of PPI started ten years ago, when my GP asked me if I wanted to participate in the RAPSID study, investigating the use of peer-to-peer groups for the improved control of type-2 diabetes.
Following my retirement I joined several PPI teams for studies investigating weight loss and management to achieve remission of type-2 diabetes, at both MRC Cambridge (GLoW and SWiM) and Leeds Beckett University (Re:Mission).
I was also involved in the NERVE study sponsored by University Hospitals Dorset, evaluating a low-cost method to detect peripheral neuropathy in diabetes patients.
Helping researchers find the best treatments and care
So why do I think people like you and me need to take part in research? Well, if you’re suddenly taken ill and rushed to hospital, or your GP refers you to a hospital clinic for further investigation, or you’re put on drugs to control a new condition, you want to know that you are getting the best possible treatment.
In fact, you can volunteer to help make sure that happens!
No new drug, procedure, test or treatment can be rolled out across the NHS without being clinically tested and proven. And to do that requires help from patients and members of the public.
Ways you can take part
Volunteer as a patient
The input from patients and the public can be in a range of ways. The most obvious and well-known is to take part in a trial as a patient. This may happen if your GP Practice or Clinic is helping with a study and you are asked if you wish to take part, which is what happened to me 10 years ago!
Or you can visit the NIHR’s Be Part of Research website to see what opportunities there are and sign up for notifications for future research.
Nothing wrong with you? Lucky you, but in fact you can volunteer as a healthy person too, for comparison purposes in trials!
Each study has its own Patient Information Leaflet, explaining about the study, how much of your time will be needed, and any other details you may need.
All trials are vetted and approved by an ethical team, so rest assured you will be treated well and monitored carefully.
My experience of being on a study was interesting. The participants were randomised to different groups and we didn’t know what the expected outcome was, until the results were published.
Volunteer as a public or patient member of a research team
Another way to volunteer is to actually be part of the research team.
“How can I do that, I’m not a scientist?” you may ask.
These days, all health-related projects have to include as part of their team members of the public who may have in the past or currently are experiencing the condition under evaluation. This is the Patient & Public Involvement (PPI) team and they help ensure the scientific team and project management focus on the needs of the patients.
Remember that Patient Information Leaflet mentioned just now, that all study patients receive? That will have been reviewed and edited by the project PPI team to make sure it is readily understandable and addresses a patient’s concerns.
The PPI team will do much more than that however – helping to write the project proposal, monitoring the project while it’s running, helping to prepare and review the many documents and reports while the project is in progress, and helping to disseminate the findings to clinicians, patients and the general public.
It’s really interesting to find out how health research projects are carried out, and so satisfying when the results are published!
I’ve just been part of a team evaluating a major NHS England trial, and I helped co-author one of the academic papers and I’m acknowledged on many of the others too!
Volunteer to decide on research funding
The third way is to actually work for the NIHR, which is the government’s major funder of clinical research in England, as a volunteer reviewer.
We are allocated research proposals to review a few times a year. These detail the objectives of the research, the team that will carry it out, how the study will recruit patients and what they will do, how the results will be compiled and analysed, how the PPI team will be involved and how much it will all cost.
As a lay reviewer I’m sanity-checking the proposal from a patient perspective. Is the recruitment rate of participants realistic? Will they volunteer for the study or be put off by what they are asked to do? Is the PPI team really involved in the study, or are they there just to tick a box? And as one of my special interests, I look for EAU – Excessive Acronym Usage!
The nitty-gritty technical content of the proposal is peer-reviewed by scientists, but the lay reviewers can still contribute greatly to the assessment of each project.
After our reviews are submitted, the proposal will move onto a funding committee that decides whether it goes ahead, rejected or sent back for changes.
We get feedback of all of the review comments, so it’s really interesting to see how my comments and views on a study compare with others.
So there you have it! You can volunteer at all ages, and young people are under-represented so always welcomed.
There’s normally some financial compensation offered for your time; you won’t get rich but it’s a welcome sign that your time is appreciated and your contribution valued.
And if you do find yourself in a hospital clinic one day, you’ll be proud that the treatment you’ll receive has been developed in conjunction with volunteers like you!
Mike Willis
To find out more about taking part in research, search #BePartofResearch on X (formerly Twitter).
https://cambridgebrc.nihr.ac.uk/wp-content/uploads/2024/05/Mike_Willis.jpg15551166cbrcprodhttps://cambridgebrc.nihr.ac.uk/wp-content/uploads/2024/04/Cambridge_BRC_NIHR_logo.pngcbrcprod2024-07-16 13:09:502025-01-10 17:59:51Taking part in research: a patient’s perspective
This is a chance for us to jointly celebrate and showcase the many opportunities for public involvement in health, social care, research, and community activities across the East of England. The week aims to raise visibility and awareness of public involvement, to show case the positive impact it has and to encourage networking and collaboration across organisations and community groups.
Who is running the week?
This week was initiated through a partnership between NIHR Cambridge Biomedical Research Centre and Anglia Ruskin University, who have been working to increase our collaborations with groups and communities across the region working in public involvement across the health, research and community spaces.
Who can get involved?
Anyone working to support public involvement in research across the East of England – individuals, groups, or organisations. You can contribute as many or few activities, events or media as works for you, or just amplify and/or share the opportunities/activities shared by others.
How can I get involved or support the week?
There are lots of ways that you can get involved:
Plan an event to showcase opportunities to get involved in your organisation or project.
Share stories, articles, blogs or other media about your contributors, involvement teams or projects.
Highlight the difference that involvement makes to your organisation.
Partner with local or regional organisations to show how you work together with the public.
Share best practice and learnings from your activities.
AND…
Share/amplify others’ events through your communications channels (#InvolvementEastern2024)
Let us know what you’re doing so we can share too!
Where can I ask questions or share the activities that I’m planning?
https://cambridgebrc.nihr.ac.uk/wp-content/uploads/2024/09/Cambridge-Biomedical-Research-Centre-PPItraining-e1727685286455.jpg9801500Jesshttps://cambridgebrc.nihr.ac.uk/wp-content/uploads/2024/04/Cambridge_BRC_NIHR_logo.pngJess2024-04-17 16:47:552024-12-03 14:46:42East of England Regional Patient and Public Involvement Week
Baby Louisa was about six weeks old when her mum Michaela started to be concerned about her.
At the time, the family were living in Canada and Louisa – who was born with an ectopic kidney – wasn’t feeding and wasn’t putting on weight.
Michaela said: “She also looked a little different. But nothing was screaming out at me. Just a lot of little things which were worrying.”
When Michaela took Louisa to the emergency department with breathing problems – by now her breathing was very laboured and noisy – she was told by staff that Louisa’s oxygen levels were fine and that this was just something her daughter would outgrow.
Michaela continued: “So I thought, okay, she’s with an ectopic kidney but she can live without a kidney, she has this airway disorder but she’ll grow out of it. But she reached about three months old and she still wasn’t gaining weight, at four months she still looked like a newborn, by eight months she wasn’t sitting.”
“It’s been transformational”
On a prolonged stay in the UK, Michaela took Louisa to Great Ormond Street Hospital, where she was referred to a neurologist. Michaela said: “He said to me, please don’t listen mum, because I’m going to report the things that I see.
“He then highlighted all the things he noticed about how Louisa looks, saying her ears are too low, her lips are too thin, her nose is too flat. He listed all the visual parts of her that suggested to him that she has a genetic condition.
“That hadn’t even been on my radar. But I remember being really upset, because this was my beautiful baby he was talking about. Everything that we think is beautiful about her, is actually something that could be considered a genetic feature. So we think her eyes are extraordinary, the most beautiful part of her, but they’re also an indication of something else.”
On the family’s return to Canada, doctors recommended genetic testing for mum, dad and Louisa.
The results showed that Louisa had genetic variants including one de novo genetic mutation in ZNF865, but no one knew what it meant. At the time, doctors knew of just one other child from Denmark who had the same gene mutation. (There are now 13 children worldwide recognised with the same diagnosis.)
Michaela said: “I remember being really disappointed when the results came through, because I had expected answers, what did Louisa have? How long would she live for? How can I best help her?
“But having those few letters and numbers was transformational, we just didn’t realise it at the time.”
Community
In 2019 the family moved back to the UK, Louisa was placed under the care of Dr Marlow, consultant paediatrician at Colchester Hospital, and the results of her genetic tests in Canada were shared with the NHS.
Former primary-school teacher Michaela is now full-time carer for Louisa, who along with other children with the same mutation, has global developmental delay and a variety of health problems caused by the change in the ZNF865 gene. She has a severe sleep disorder and is non-verbal.
Michaela believes the genetic tests for her daughter have given them above all a community: “If you have a disabled or severely disabled child without a diagnosis, you can find yourself in a no man’s land and that’s really scary and lonely.
“I don’t feel I’m there anymore because thanks to genetic testing I have part of an answer, a combination of letters and numbers, and all of a sudden our world opened up to more people. That’s been emotionally invaluable.”
Geneticists have received funding to research the condition and the next step is to get it officially recognised as a rare condition.
Michaela said: “We don’t know what her future holds, but we do know that every day she is a blessing to us. She shows us the way.”
How a collaboration is helping more families in rural and deprived areas to access WGS tests
Michaela and her family are very grateful to have had whole genome sequencing for her daughter – and now more children with neurodevelopmental disorders (NDDs) can have access to whole genome sequencing tests, thanks to a collaboration between the Synapse Centre for Neurodevelopment in North Essex and NIHR Cambridge Biomedical Research Centre.
In fact, in just six months the collaboration has shown dramatic results.
Dr Marlow (photo, below), Director of the Synapse Centre said: “One in five of the children I see has a moderate-to-severe learning disability, or NDD, and genetic testing is essential to help us understand them biologically and genetically.
“But until recently we simply didn’t have the capacity to recruit and consent patients and families for genetic testing and research.”
This changed in May last year when the Synapse Centre joined forces with NIHR Cambridge BRC’s Antenatal, Maternal and Child Health theme; one of the resources it is funding is dedicated research time to consent families for whole genome testing.
Dr Marlow said: “It takes up to an hour to consent each family, and in a service which is already pressed clinically it’s really important to protect this time, which BRC funding has enabled us to do.”
The results speak for themselves. From May to November last year, the Synapse Centre recruited 27 families for WGS testing (compared with just two families in the previous 12 months) and almost 60 children to take part in research studies related to their conditions.
Dr Marlow said: “WGS tests are a vital part of our work at the Synapse Centre, which researches conditions such as autism, ADHD, Cerebral Palsy and genetic syndromes.
“The tests not only provide more accurate diagnoses, they could also open up more personalised interventions and treatments to help meet the needs of children with these conditions, both now and in the future.”
Antenatal, Maternal and Child Health Theme lead Professor David Rowitch said: “For patients with rare genetic conditions, we can offer tools for rapid diagnosis using whole genome sequencing, and we’re committed to providing these services across our region including under-served areas such as Colchester.
“Our studies, inclusive of diverse populations, will better demonstrate the value of advanced diagnostic services across NHS England.”
Recruiting to studies
Through the collaboration the Synapse Centre has recruited nearly 60 children to clinical trials, including the Cambridge-led NeuralNET Cerebral Palsy pilot study which is looking at the feasibility of WGS tests for children with CP whose clinical care might be changed by the result.
Dr Marlow said: “Studies have shown up to a third of children with cerebral palsy potentially have a genetic reason for their condition. This opens the door to potential treatment options that were not available before and we can address symptoms earlier.
“And if we can address them early on, we can prevent them from progressing which can lead to further complications.”
Overcoming barriers
Funding from the collaboration with NIHR Cambridge BRC is also paying for a paediatrics genetics counsellor for Colchester Hospital – which currently has none – who will start in early 2024.
Dr Marlow said: “This is badly needed and will go some way to addressing inequality of access to genetics services in the region.
“Part of this role will include patient recruitment to genetic research studies and to the NIHR BioResource.
“Having a paediatric genetics counsellor in situ will also help in promoting the benefits of WGS in the region, where under-served communities in particular face a combination of economic, social, environmental and cultural barriers.
“For example families may live in very deprived communities, or their parents have similar learning challenges, or they don’t access healthcare, or their sociocultural and physical environment may determine what’s acceptable to them.”
Framework for district generals
The collaboration with NIHR Cambridge BRC could serve as a framework for other district general hospitals across the East of England.
Dr Marlow added: “Our collaboration with Cambridge has accelerated our whole genome testing across paediatrics, but particularly in NDD.
“It’s also helped connect local families with the genetic service that is trying to define their needs better, and it’s raised the need to prioritise early intervention through better understanding of biological difference to the local ICB (Integrated Care Board) that commissions healthcare services for our population.
“And it’s shown how district general hospitals – which tend to offer fewer WGS services – can work with major university centres to promote WGS tests that aren’t universally commissioned but which are fundamental to helping children with additional needs.”
Professor Miles Parkes, Director of the NIHR Cambridge BRC, added: “It is great to see this cutting-edge research being taken out across the region and to see the enthusiasm with which it is being embraced in Colchester.
“It is critically important that our BRC-funded research infrastructure reaches into all corners of the region so that its benefits can be distributed beyond the traditional big university centres.
“We are very grateful to the team in Colchester for supporting the work and we very much hope that this will be a springboard to future collaboration.”
Personal motivation
Dr Marlow also has a personal motivation driving his research. His nine-year-old son Freddie is non-verbal, autistic and has many health issues.
Dr Marlow said: “In 20, 30 years’ time I firmly believe we’ll have a genetic and biological reason for his brain development, and that moreover every child in the UK will have their genome sequenced at birth, as the start of individualised care that will last their lifetime. “We’re not there yet, but we have to start somewhere and widening access to WGS testing is an important step to better understand and help children with NDDs, for children like Louisa and Freddie.”
29 February is Rare Disease Day. Visit their website to find out more about this incredible grass-roots globally movement on rare diseases.
It’s not too late to join our Rare Disease webinar on patient-centred research! Book your ticket on EventBrite before 12pm today.
https://cambridgebrc.nihr.ac.uk/wp-content/uploads/2024/02/RDD-2024_Strong-Proud-Many_1080x1080px_ENGLISH.png10801080cbrcprodhttps://cambridgebrc.nihr.ac.uk/wp-content/uploads/2024/04/Cambridge_BRC_NIHR_logo.pngcbrcprod2024-02-29 08:24:082025-01-10 17:56:10How genetic testing answered questions for local family living with a rare disease
How is health data used for research? What choices do researchers make when using patient data for their research?
And what impact do those choices have not only on the quality and reach of their research, but also on patient privacy and public trust?
At this free virtual event, researchers Professor Angela Wood, Dr Raj Jena and Dr Ari Ecole will join patient advocate Rosanna Fennessy as they look at four real-life examples of local research where health data was used.
The panel will then explore the challenges and concerns that emerge from different types of data use – followed by a Q&A from the audience logging in online.
Book your tickets on EventBrite
Join us online on Thursday 14 March 2024 from 5.30pm to 7.00pm. Make sure you don’t miss out: visit our Eventbrite page to reserve your spot.
This event is part of this year’s Cambridge Festival. We will also be at the Cambridge Academy of Science and Technology for the Festival’s family weekend on 16 March – put it in your diary now!
Other events from NIHR organisations
Find out what our partner NIHR organisations are also doing at the Cambridge Festival
What INTERVAL is right? Racing like a blood donor Saturday 16 March 9.30-16.30 at CAST, Cambridge Biomedical campus An interactive stall to engage young people and families in learning about blood donation research.
Inheritance, DNA, and Heart Disease Schools day Tuesday 19 March 10.00-14.00, West Cambridge Hub. A craft workshop which will use beads and elastic to make bracelet models of DNA. The children will then use those models to learn how to detect bad characteristics and what scientists are doing at the University of Cambridge to understand and prevent diseases such as heart disease.
Who has the healthiest heart? Sunday 24 March 09.30-16.30, University of Cambridge Student Services, New Museums site A family-friendly fun card game to learn all about cardiovascular disease risk prediction and how it can identify adults at risk of heart disease. Make sure you book your place to attend.
The National Institute for Health and Care Research (NIHR) is the UK’s largest funder of health and care research. Its mission – to improve the health and the wealth of the nation through research – is shared across all its constituent programmes, units and centres.
If you’d like to find out more about how the NIHR works, visit www.nihr.ac.uk. To find out how YOU can be a part of it, go to bepartofresearch.uk
https://cambridgebrc.nihr.ac.uk/wp-content/uploads/2024/02/Cam-Fest-Uni-logo.png945754cbrcprodhttps://cambridgebrc.nihr.ac.uk/wp-content/uploads/2024/04/Cambridge_BRC_NIHR_logo.pngcbrcprod2024-02-13 10:10:392025-01-10 17:54:47No simple choices: tickets now open for our Cambridge Festival panel discussion on privacy and consent in health data research
Do you want to work for an outstanding organisation at the forefront of Health and Care research delivery?
The National Institute for Health and Care Research (NIHR) is seeking individuals with extensive experience of senior leadership within a health or care specialty or setting for 30 National Specialty Lead and four National Setting Lead part-time roles to act as high calibre ambassadors for the NIHR Research Delivery Network and to provide senior leadership and strategic direction for matters of research delivery across the relevant specialty and setting.
The roles are available in the following Specialties and Settings on a 0.1 Full-Time Equivalent (FTE) basis (more FTE may be available for several posts as detailed in the further particulars):
Specialties:
Ageing; Anaesthesia, Perioperative Medicine and Pain Management; Cancer; Cardiovascular; Children; Critical Care; Dementia & Neurodegeneration; Dermatology; Diabetes, Metabolic & endocrine; Ear, Nose & Throat; Gastroenterology & Hepatology; Genetics; General Practice; Haematology; Imaging; Infection; Mental Health; Musculoskeletal & Orthopaedics; Neurology; Ophthalmology; Oral & Dental; Palliative Care; Public Health; Renal; Reproductive Health & Childbirth; Respiratory; Social Care; Stroke; Surgery; Trauma & Emergency Care.
These high-profile national roles will report into the RDN Strategic Development Director and form part of the RDN National Specialty and Setting Leadership team, and will proactively develop effective relationships with decision-makers in the public sector, charity and life science organisations (non-commercial, pharma, medtech, diagnostics and biotech) and other related external stakeholders to further the aims of the NIHR RDN. The posts will commence from April 2024.
To apply please submit a concise CV and a supporting statement (maximum of three pages of A4, font size 12) setting out your vision and suitability for the role. The deadline for applications is midnight on Sunday 25 February and virtual interviews are anticipated to take place during the period 11-22 March.
For further information about these roles and to submit an application, please visit the University of Leeds website or for any queries please contact NSSLappts@nihr.ac.uk.
https://cambridgebrc.nihr.ac.uk/wp-content/uploads/2024/02/cluster-3652876_1280.jpg7041280cbrcprodhttps://cambridgebrc.nihr.ac.uk/wp-content/uploads/2024/04/Cambridge_BRC_NIHR_logo.pngcbrcprod2024-02-07 09:55:572025-01-10 17:54:25Candidates sought for NIHR senior leadership posts
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