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 1
Cambridge Rare Disease Network - 2019 Rare Disease Day Cambridge Lecture 2

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 3

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 4

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 5

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 6

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 7

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

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 9

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

Cambridge Rare Disease Network - Rare Disease Day 2018 Addenbrooke's Concourse 10
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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