Rare Disease Day Cambridge Lecture follow-up

Click here to read Ella’s story

Put motivated people together to talk rare disease research and network and you can expect an interesting evening. And that’s what happened when over 150 people attended the public evening, hosted by the NIHR BioResource for Translational Research and Cambridge Rare Disease Network, that took place on International Rare Disease Day.

Here you can find out what was discussed and see the event feedback.

Full Agenda and Biographies from the day.

 

Photographs from the evening

Presentations from the evening

Click on the links below to view the audio and presentation slides for each talk.

 

Feedback and Social Media – click on the images below to view full size

See some of the suggested topics for future rare disease events

View some of the Social Media tweets from the event

BBC Cambridgeshire Radio interview tweet

Feedback from over 60 attendees

 

 

 

 

 

 

 

 

 

 

If you require any further details about the evening, please contact Georgina Norris on email: gan23@medschl.cam.ac.uk.

Diagnosis and treatment of rare diseases given boost through grant win

A project to help with the identification, diagnosis and treatment of the one in 17 people in the UK who have a rare disease in the UK has won a £400,000 grant.

Working with five NHS Trusts, the Rare Diseases Sprint Exemplar Innovation Project aims to develop a secure cloud research platform with the potential to transform the understanding of rare genetic disorders, drive improvements in diagnosis and provide proof of principle for use in other diseases.

The goal is not just to help patients but also help the NHS save money. The cost of an undiagnosed rare disease patient is significant – whilst undiagnosed, the cost per patient is more than twice that of other patients, an average difference of £7,000 more per patient per year.[1]

This project will be funded by UK Research and Innovation (UKRI) as part of the government’s Industrial Strategy and is a collaboration between Cambridge University Health Partners and Eastern Academic Health Science Network, Privitar, and AIMES, who will be working with NHS Trusts, and the National Disease Registries at Public Health England, Microsoft Research and the Wellcome Sanger Institute to build on the National Institute for Health Research’s (NIHR) investment in the NIHR BioResource for Translational Research in Common and Rare Diseases.

The aim is to build on the advances which clinical imaging, pathology and genomic technologies have made in understanding rare diseases by creating a secure, anonymised platform to draw together and integrate data from the NHS with research data.

The project will initially involve patients with rare diseases recruited to the NIHR BioResource – a national resource of volunteers who have already provided consent that information retrieved from their health records can be used for medical research.

Professor John R Bradley Director NIHR Cambridge Biomedical Research Centre and Co-Chair of NIHR BioResource said: “Rare diseases can be extremely difficult to diagnose because they often have an unidentified genetic cause. Recent advances in clinical imaging, pathology, and genomic technologies have led to remarkable progress in understanding disease – particularly rare diseases, but the power of these technologies cannot be fully realised until the immense volume of data generated can be integrated with NHS data, then analysed. This is what our project aims to achieve.

“We will only be using data from patients with rare diseases who have already consented to their information being shared for research.  Using the expertise of the various partners involved, we will, in a secure environment that protects the privacy of individuals, link these patients’ NHS data with their genetic data and make this combined resource available for analysis as part of approved research studies.  Creating this secure research environment has the potential to transform our understanding of rare diseases, help doctors to diagnose patients much earlier, and potentially unlock our understanding of how more common diseases work.  This is clearly an exciting time for everyone involved.”

Debbiea patient from London said: “As a patient with a rare disease, I think that this is a really exciting project that will make it much easier for researchers to work on rare diseases. To really understand a rare disease – what causes it and how to diagnose, treat or prevent it – researchers need access to as much relevant information as possible on as many patients as possible.  I am reassured that there is a really strong emphasis on keeping our information secure and on privacy, to prevent individuals from being identifiable by researchers, and to make sure researchers are only given the information that they need. “

The project is one of ten innovative data solutions to healthcare challenges to receive a share of £3 million Government funding following a UK-wide competition. The initiatives will see NHS, universities and companies combining expertise and using health data responsibly to drive innovation and improve health outcomes for people across the UK.

Each of the initiatives will build on best practice and will inform the future delivery of a UK-wide infrastructure for health data research and innovation.  This is the first step in creating ‘Digital Innovation Hubs’ across the UK to securely and safely connect data from the NHS with genomic data and other molecular data for research.  Led by Health Data Research UK – the national institute for health data science – this will unlock opportunities for scientific discovery and support the development of future treatments, increase our understanding of disease, enhance health services and ultimately improve the way we are able to prevent, detect and diagnose diseases such as cancer, heart disease and asthma.

Professor Andrew Morris, Director of Health Data Research UK said: “These ten projects from across the UK, all led by clinicians working with researchers and industry partners, will demonstrate how the trustworthy use of health data and technology can improve patient pathways, make ground-breaking discoveries quicker and put the patient in charge. We are very excited about bringing these digital projects together with public participation and support so that health data research is brought to life at scale, demonstrating public and patient benefit of digital innovation in healthcare.”

Health Minister Nicola Blackwood said: “The NHS has an unrivalled data pool – we need to work with researchers, experts and industry partners to take full advantage of this to unlock solutions to some of healthcare’s biggest challenges.

“These ten innovative projects are just the start of a technological revolution to create one of the most advanced health and care systems in the world to diagnose diseases earlier, save lives and empower patients to take greater control of their own healthcare.”

[1] https://imperialcollegehealthpartners.com/new-report-reveals-undiagnosed-rare-disease-patients-cost-nhs-excess-3-4-billion/

Written by Cambridge University Health Partners

New resource to help rare disease researchers

Approximately 3.5 million people have a rare disease in the UK; however, many people do not know the name or cause of their condition, except that it is categorised as a rare disease. One team in Cambridge is providing the tools for researchers to help people find new diagnoses or treatments for rare disease patients.

The National Institute for Health Research (NIHR) BioResource is a resource of volunteers with or without a health condition who give their consent to be recalled to take part in research studies. In England there are 13 NIHR BioResource centres based within hospitals which research different health themes.

One theme the NIHR BioResource focuses on is rare diseases. “A rare disease is a genetic disorder which people can live with for years without understanding their condition or the cause.

Dr Kathy Stirrups

They can see multiple clinicians in different specialties, undergo numerous tests just to find out what the disease is; all of this can take time and be really frustrating for people,” says Dr Kathy Stirrups Head of Sample Management Team for the NIHR BioResource, based in Cambridge.

“Our aim is to provide a resource for researchers to assist with their clinical investigations which can ultimately provide patients with a diagnosis and new treatments.

“We recruited over 13,000 people who have a rare disease including their relatives to join the NIHR BioResource then we sequenced their whole genome.

“A genome is 3.2 billion letters of a person’s DNA and contains around 20,000 genes. We sequenced each participant and for a few we were able to find a diagnosis or discover new genes that were the cause of their rare disease.

“It used to take at least a year to sequence and analyse someone’s whole genome, however, as technology improves this kind of testing is speeding up. It’s a fantastic resource as we are able to find where the anomaly is in a person’s genetic code. With this large data set we can collaborate with researchers to further rare disease research.”

Helping researchers

Finding the right group of patients who are suitable for a research study can take several years, but finding participants with a rare disease can be particularly difficult. 

Thought to be the largest rare disease resource of its kind, the NIHR BioResource is giving rare disease researchers the opportunity to use the data collection for their own clinical research.

“The NIHR BioResource allows people to sign up and be recalled to take part in a research study. For the rare disease participants we also have their genome and a detailed clinical description. Having this wealth of data from a large cohort of rare disease patients readily available is unique. We can now provide a valuable resource for researchers and help them with their rare disease discoveries” explains Kathy.

“All data provided by the participants is anonymised and researchers have to complete a rigorous application and meet strict security procedures before accessing the genetic data. When they have been approved, they can view the information and apply it to their research, and this will hopefully accelerate finding new treatments for people with rare diseases.”

Already the NIHR BioResource rare disease resource has been used for research studies leading to several publications on new causative genes or research methodologies. The team hope more researchers will be able to apply it to their research. InOctober 2018, Kathy presented this new resource at the American Society of Human Genetics conference in the hope more researchers will come forward to collaborate with the NIHR BioResource.

Kathy added: “We want to help researchers find new diagnoses and treatments to eventually give patients the answers they so desperately need for their conditions.”

GLAD reaches first milestone

On Tuesday 18th September, the largest study investigating the genetic factors in depression and anxiety was launched. 

Funded by the National Institute for Health Research (NIHR), and a collaboration between the NIHR BioResource and King’s College London, the GLAD (Genetic Links to Anxiety and Depression) study is calling for 40,000 people with depression and/or anxiety to sign up to their study so researchers can investigate these two conditions.

From a small saliva sample, researchers will extract the DNA and will look at the links to what causes the conditions with the aim to develop new therapies and treatments.

Going live 

First set of saliva kits that were sent out

Within 24 hours after the launch, the study hit multiple news platforms, featuring on ITV news, Guardian newspaper and BBC News. It generated a huge response and over 10,000 people have already signed up to take part. By the end of the first week thousands of saliva kits were sent out to participants.

The study has also received a tremendous support from famous faces such as television presenter Gabby Logan and Pointless presenter Alexander Armstrong. The study hopes to be the first step to better understanding anxiety and depression and improve the lives of future patients.

Dr Gerome Breen, NIHR Maudsley Biomedical Research Centre, who is leading the study said: “It’s a really exciting time to become involved in mental health research, particularly genetic research which has made incredible strides in recent years – we have so far identified 66 genetic links for depression and anxiety. By recruiting 40,000 volunteers willing to be re-contacted for research, the GLAD Study will take us further than ever before. It will allow researchers to solve the big unanswered questions, address how genes and environment act together and help develop new treatment options.”


Get involved

 

The GLAD study still need more people to sign up and it is open to anyone in England aged 16 or over, who has experienced clinical anxiety and/or depression. If you would like to take part, register at GLADStudy.org.uk or watch this animation or find out more on their Twitter page.

With your help, researchers can understand these mental health conditions and find better treatments for people in the future.

40,000 people urged to sign-up to the largest study of depression and anxiety

Researchers at the Institute of Psychiatry, Psychology & Neuroscience (IoPPN), King’s College London and the NIHR BioResource are calling for 40,000 people with depression or anxiety to join the online Genetic Links to Anxiety and Depression (GLAD) Study, funded by the NIHR.

By recruiting at least 40,000 people in England who have experienced either depression or anxiety at some point in their life, the Genetic Links to Anxiety and Depression (GLAD) Study will make important strides towards better understanding of these disorders and improving the lives of future patients. GLAD will provide a ‘pool’ of potential participants for future studies on the genetic aspects of these two conditions and reduce the time-consuming process of recruiting patients for research.

The study is led by  Dr Gerome Breen, Reader of Neuropsychiatric & Translational Genetics, NIHR Maudsley Biomedical Research Centre, IoPPN, King’s College London and he comments: “It’s a really exciting time to become involved in mental health research, particularly genetic research which has made incredible strides in recent years – we have so far identified 66 genetic links for depression and anxiety. By recruiting 40,000 volunteers willing to be re-contacted for research, the GLAD Study will take us further than ever before. It will allow researchers to solve the big unanswered questions, address how genes and environment act together and help develop new treatment options.”

The GLAD Study, funded by the National Institute for Health Research (NIHR) as a collaboration between the NIHR BioResource and King’s College London, has been designed to be particularly accessible, with a view to motivating more people to take part in mental health research.

Dr Sophie Dix, Director of Research at the charity MQ, which advocates for more research into mental health conditions, is supporting the GLAD Study. She comments: “Only through further research into the root causes of anxiety and depression can we hope to achieve the same breakthroughs that have been seen with other physical conditions. Our dream is a world where people can achieve full control of their mental health conditions, and where treatments are personalised to work for them. We encourage anyone living with depression or anxiety who shares this vision to enrol.”

Study co-lead, and anxiety expert, Professor Thalia Eley, Professor of Developmental Behavioural Genetics, NIHR Maudsley Biomedical Research Centre, IoPPN, King’s College London comments: “The GLAD Study is straightforward. We’re asking those who have experienced clinical anxiety or depression to complete a short survey and provide a DNA sample (from saliva). We want to hear from all different backgrounds, cultures, ethnic groups and genders, and we are especially keen to hear from young adults. By including people from all parts of the population what we learn will be relevant for everyone. This is a unique opportunity to participate in pioneering medical science – we hope the public back the study and we can reach our target of 40,000 people.”

The GLAD study is open to anyone in England, aged 16 or over, who has experienced clinical anxiety and/or depression. Taking part involves just two simple steps:

  1. Register at GLADStudy.org.uk and complete a 30 minute online questionnaire
  2. Complete and return a DNA saliva sample test, which is sent with instructions and a free return envelope

Signing up to the GLAD Study will also involve allowing access to your NHS medical records, providing important clinical data to link with other information and give a full picture of each individual. This data will be held securely (in line with new data regulations) and will only be accessed by a limited number of approved researchers. People who take part will receive updates twice-a-year about the progress of the research and online access to information on upcoming studies, watch a short animation on the study online for more information.

Cambridge team on the air waves

The NIHR Cambridge BioResource team were invited to Cambridge 105 Radio for an interview with Phil Rowe. 

Kelly, Barbara and Neil took part in the interview where they explained how to sign up and as a volunteer, what it involves and the importance of research on the Cambridge Biomedical Campus.

You can hear the interview here