CRDN teams up with Findacure to bring a sip of RARE to Pint of Science Festival

CRDN teams up with Findacure to bring a sip of RARE to Pint of Science Festival

CRDN teams up with Findacure to bring a sip of RARE to Pint of Science Festival

Cambridge Rare Disease Network - CRDN teams up with Findacure to bring a sip of RARE to Pint of Science Festival 1

For the second consecutive year, CRDN is hosting 2 rare disease themed evenings for the Pint of Science Festival. We’ll be based at the Panton Arms in Cambridge on 21 and 22 May inspiring the general public to be curious about the science and research taking place locally into rare diseases.

We’re excited to have teamed up with local rare disease charity Findacure to bring you a great selection of speakers undertaking research, delivering education programmes and raising awareness about rare disease.

“Effectively communicating science and linking it to the ‘real world’ has important benefits for both scientists and society” POS

Our speakers will explore the potential for rare disease research to help us better understand and treat more common diseases and learn about the plans for rolling out the technology and lessons learned from the 100,000 Genomes Project into the NHS.

Join in our pub quiz to win a POS pint glass and test out your own pain threshold…!

The scientists have paired with local artists who’ve created an artistic interpretation of the science. Artworks will be presented by the artist following each talk and be on display at the Creative Reactions event on 24 & 25 May at St.Barnabas Church, Cambridge 

Cambridge Rare Disease Network - CRDN teams up with Findacure to bring a sip of RARE to Pint of Science Festival 2

Your DNA Your Say!

Dr Anna Middleton (Head of Society and Ethics Research, Wellcome Genome Campus)  ‎@Genomethics 
Big Data and DNA now go hand in hand. This is pivotal for exploring the link between genes and disease. The bigger the datasets the better. Most DNA data is ‘de-identified’, i.e. names and addresses have been removed but it will soon be possible to identify a person from their DNA alone. Would this stop you donating your DNA data for research? What harms can come from this? We explore what public across the world have said and how their views are shaping policy.

Solving the Unsolved

Dr Gemma Chandratillake (Course Director, ICE Genomic Medicine programme; Education and Training Lead, East of England Genomic Medicine Centre; Clinical Genomics Specialist, Cambridge Rare Disease Network Trustee)    @GemmaChand 
On 5 Dec 2018 Health Secretary Matt Hancock announced that the 100,000 Genomes Project had reached its goal of sequencing 100,000 whole genomes uncovering new diagnoses and improved treatments for patients with rare inherited diseases and cancer.
This marks the end of a chapter rather than the end of the story and earlier this year a new target was announced for the NHS to sequence one million genomes over the next 5 years. Will delivering genomic medicine in the NHS enable better outcomes for patients and contribute to a wealth of information to drive the treatments of the future?
Cambridge Rare Disease Network - CRDN teams up with Findacure to bring a sip of RARE to Pint of Science Festival 3

Can we turn back the clock on rare premature ageing diseases?

Dr Delphine Larrieu (Group Leader at Cambridge Institute of Medical Research) 
Rare genetic premature ageing syndromes called progeria trigger the appearance of ageing signs in early childhood causing many changes to the body over time, including heart disease, bone changes, hair loss, joint and skin changes, and early death around 14 years old. Unfortunately, there is no current cure and therapies just improve the symptoms. Hear how Delphine’s team is tackling this and suggesting new treatments and how the lab’s work could also open up new perspectives into improving normal age-related pathologies.

Everybody hurts sometimes … or do they?

Dr Mike Nahorski (Cambridge Institute for Medical Research) 
Chronic pain is a debilitating condition that affects 14 million people in England alone. But scientists think the have come a step closer to understanding it – by studying a rare group of people with congenital insensitivity to pain, who feel no pain at all. Cambridge University researchers have identified a faulty gene that seems to switch pain off in some people and it is hoped the discovery could lead to new treatments for those who live with pain every day.

Creative Reactions

Elizabeth Fraser  (Printmaking/graphic design) 
Eri Ikuno (Illustrator) 
Eithne Fisher (Painting/drawing) 
Kate Grant  
(Medicine/resin/acrylic/printmaking) 
As part of the Creative Reactions project, these artists will be presenting their artwork inspired by the research of speakers in this talk series. The artwork will also be on display at our Creative Reactions Exhibition at St Barnabas Church, 24 – 25 May.

2019 Rare Disease Day Cambridge Lecture

2019 Rare Disease Day Cambridge Lecture

2019 Rare Disease Day Cambridge Lecture

Put over 150 passionate and motivated people together to talk about rare disease research and you can expect a fascinating evening. 

That’s just what happened at the recent public evening, hosted by Cambridge Rare Disease Network in collaboration with the NIHR BioResource for Translational Research at Addenbrooke’s Hospital to mark International Rare Disease Day 2019.

Cambridge Rare Disease Network - 2019 Rare Disease Day Cambridge Lecture 4
Cambridge Rare Disease Network - 2019 Rare Disease Day Cambridge Lecture 5

Short research talks were followed by a Q+A panel facilitated by Dr. Gemma ChandratillakeCRDN Trustee (pictured left)

Full agenda and biographies from the day. Click on the links below to view the audio and presentation slides for each talk.

Cambridge Rare Disease Network - 2019 Rare Disease Day Cambridge Lecture 6

Welcome Address
Prof. Patrick Chinnery
NIHR BioResource Co-Chair, Head of Department for Clinical Neurosciences, University of Cambridge

Cambridge Rare Disease Network - 2019 Rare Disease Day Cambridge Lecture 7

Improving Patient Health in CNO and SAPHO
Dr. Jagtar Singh Nijar
NIHR Clinical Lecturer in Rheumatology, University of Cambridge

Cambridge Rare Disease Network - 2019 Rare Disease Day Cambridge Lecture 8

Whole Genome Sequencing for susceptibility to infectious disease
Dr. James Thaventhiran
Consultant Clinical Immunologist, University of Cambridge (slides and audio not available)

Cambridge Rare Disease Network - 2019 Rare Disease Day Cambridge Lecture 9

Next Generation Children Project – Rapid Genome Sequencing for critically ill children
Dr. Isabelle Delon  Clinical Scientist, EMEE Genomic Laboratory

Cambridge Rare Disease Network - 2019 Rare Disease Day Cambridge Lecture 10

Imaging in the diagnosis of Rare Diseases
Dr. Tomasz Matys
University Lecturer and Honorary Consultant in Radiology, University of Cambridge

Medics 4 Rare Diseases Red Flag Survey

Medics 4 Rare Diseases Red Flag Survey

Medics 4 Rare Diseases Red Flag Survey

Medics4RareDiseases are excited to announce the launch of their new research project: The M4RD Red Flags Survey.

Cambridge Rare Disease Network - Medics 4 Rare Diseases Red Flag Survey 12

The purpose of the survey is to find out what different rare diseases have in common during the time before diagnosis, a period often called ‘the diagnostic odyssey’.

This is a piece of research that M4RD have wanted to do for many years as they have attended conferences listening to similar stories from patients and families irrespective of their specific rare disease. The final survey is the culmination of many hours of discussion and design.

The survey opens on Monday 23rd July and closes at the end of August 2018.

Please get involved and share your views so we can all support Medics4RD in driving change within the medical profession in terms of rare disease diagnosis. It is an online survey that takes 10 minutes to complete and can be accessed via this link: http://bit.ly/M4RDredflags.

If you need to access the survey in any other format or have any issues don’t hesitate to contact info@m4rd.org.

 

Cambridge Rare Disease Network - Medics 4 Rare Diseases Red Flag Survey 13

Rare Disease Day 2018 – CRDN/NIHR lecture event

Rare Disease Day 2018 – CRDN/NIHR lecture event

Rare Disease Day 2018 – CRDN/NIHR lecture event

CRDN and NIHR Cambridge Bioresource team collaborate to host a Cambridge rare disease day lecture event #ShowYourRare

Rare Disease Day takes place on the last day of February each year. The purpose is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on the lives of those affected.

Since its launch by EURORDIS and its Council of National Alliances in 2008, thousands of events have taken place throughout the world reaching hundreds of thousands of people and resulting in a substantial of media coverage. 

Following on from 2017, the theme for RDD is once again research. There has been great progress in rare disease research, often driven by effective collaborations between companies, researchers and patient advocacy groups.  Click here to find out more about the vital role patients play in the research process.

Together, CRDN and the Cambridge NIHR Bioresource team created a programme of short talks to showcase some of the ground-breaking research  being undertaken in Cambridge into a range of rare conditions.

 

The theme of rare disease day 2018 is research.
The best research translates findings into meaningful health outcomes and  involves patients  at all stages.

#showyourrare                   #whywedoresearch

 
Cambridge Rare Disease Network - Rare Disease Day 2018 - CRDN/NIHR lecture event 14

Snow didn’t stop play…

Despite the snow and chilly temperatures calling for a cosy evening in on the sofa, the rare disease community came out in force to celebrate Rare Disease Day 2018 at the Uni of Cambridge School of Clinical Medicine, William Harvey Lecture theatre.  Dr. Mike More, Chair of Cambridge University Hospitals, opened the evening for an exciting mix of attendees: those living with rare disease and their family members; young health professionals and students; clinicians; company and charity representatives working in related fields and the curious. Those gathered were treated to excellent presentations about current research from a wide range of speakers based on the Cambridge Biomedical campus and in the city. See the agenda opposite for info on speakers and their talks.

We used Glisser technology at the event to encourage the audience to get involved and engage with speakers by posing questions, responding to polls and sharing slides via social media. For the speaker responses to delegate questions please see here 

Rare Disease Day 2018 Addenbrooke’s Concourse

Rare Disease Day 2018 Addenbrooke’s Concourse

Rare Disease Day 2018 Addenbrooke’s Concourse

Cambridge Rare Disease Network - Rare Disease Day 2018 Addenbrooke's Concourse 15
Kay and Jo at Addenbrookes concourse meeting the staff and public

Some of the CRDN team headed to Addenbrookes to celebrate Rare Disease Day 2018 by meeting patients, visitors and staff with other rare disease advocates at the concourse.

CRDN’s Kay Parkinson and Jo Balfour took shelter from the snow to spend a busy few hours with other charities and departments from CUH chatting to patients, visitors and staff at Addenbrookes concourse in celebration of Rare Disease Day.

We’re always amazed by people’s curiosity, their personal stories and the knowledge we can share and gain from these kinds of interactions. Thanks for stopping by!

It was a great opportunity to let people know about our joint CRDN/NIHR BioResource lecture event later that evening too.  Read our next blog post to see who our guest speakers were.

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