Rare Disease Day Cambridge Evening Lecture 2019
Doors open at 5.30pm. Talks are between 6pm to 7.30pm, followed by a drinks reception until 8pm. The evening highlights Rare Disease Day and Rare Disease Research
It will include:
- Hearing from speakers involved in rare disease research
- A Q&A session with all the speakers
- Connecting with other patients and carers
- Meet and network with representatives from the Rare Disease community, patients, charities, academia, industry and researchers.
- Opportunity to sign up to NIHR BioResource
Jointly hosted by:
NIHR BioResource for Translational Research
Chair: Professor Patrick Chinnery, NIHR BioResource Co-Chair, Head of Department for Clinical Neurosciences, University of Cambridge
Dr Jagtar Singh Nijjar, NIHR Clinical Lecturer Lecture in Rheumatology, University of Cambridge ‘Improving patient health care in CNO and SAPHO’
Dr Isabelle Delon, PhD, Clinical Scientist, EMEE Genomic Laboratory Next Generation Children Project which investigates the clinical utility of rapid whole genome sequencing for children in intensive care.
Professor Ken Smith, NIHR Cambridge BRC Theme Lead for Inflammation, Infection and Immunotherapeutic, Professor of Medicine and Head of the Department of Medicine at the University of Cambridge.
Dr Tomasz Matys, University Lecturer and Honorary Consultant in Radiology, Department of Radiology, University of Cambridge
Q&A Facilitator: Dr Gemma Chandratillake, Course Director, ICE Genomic Medicine Programme
Closing Remarks: Dr Nathalie Kingston, Director of NIHR BioResource for Translational Research
Book your free ticket on Eventbrite
Refreshments will be provided before and after the lecture.
About Rare Disease Day
2019 marks the twelfth year that the internationally rare disease community will celebrate Rare Disease Day.
On 28 February 2019, people living with or affected by a rare disease, patient organisations, politicians, carers, medical professionals, researchers and industry will come together in solidarity to raise awareness of rare diseases. This year’s theme is ‘Bridging health and social care’.
Getting to the venue
Getting to the Clinical School Map and Directions
Car parking is available at a discounted rate of £3.90 (the cheaper all day rate) in car park 1 only, this is the closest car park to the Clinical School. The entrance to car park 1 is opposite the Cambridge Blood Centre.
On entering the car park, take a ticket from the machine at the barrier. When you have parked your car, head to the ground floor, either by taking the lift of stairs. Exit on the ground floor walking towards the main hospital. At the end of the ramp (covered walk way) you’ll find the Clinical School’s entrance directly across the road.
On returning to your car, go to the customer service desk on the ground floor. Show the attendant your Eventbrite ticket and for £3.90 they will give you a replacement ticket to use when exiting the car park.
There are lots of buses to the campus (Bus A and Bus U stops close to the venue near Outpatients). For details click here
There is parking for bicycles opposite the Clinical School’s entrance and the outpatient’s area.
If you have any further questions
Please contact Georgina Norris or telephone: 01223 254608
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.
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.”
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
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.
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.”
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:
- Register at GLADStudy.org.uk and complete a 30 minute online questionnaire
- 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
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
Short film shows what it’s like to take part in a study as a healthy volunteer
Have you thought about signing up to the NIHR BioResource as a healthy volunteer?
As far as clinical research is concerned, it could be one of the best things you ever do!
When volunteers take part in our studies, they help researchers to understand more about the role of specific genes involved in the development of disease. And that could help them to identify better treatments or cures for disease.
So what happens when you join us as a healthy volunteer?
You can find out more elsewhere on our website – and you could also watch below a short film of one of our healthy volunteers, Michael, as he talks openly about what was involved for him when he signed up.