Wellcome Genome Campus Lecture and Tour

Wellcome Genome Campus Lecture and Tour

Wellcome Genome Campus Lecture and Tour

Summit Patient Journey poster creators and Unique Feet parents on tour at the Wellcome genome campus. 

As part of our #CRDN2017 summit, 33 rare disease patient groups and individuals created posters for exhibition and inclusion in a Patient Journey poster book. As a thank you and an opportunity to meet others and to continue to learn, the Cambridgeshire based Wellcome Genome Campus Engagement Team treated them and some of our Unique Feet group parents to a fascinating presentation, a guided tour and delicious lunch.

Dr Steve Scott from the Public Engagement Team delivered an interesting introductory talk about the history of and the pioneering work being undertaken at the Wellcome Genome Campus.  Following Prof Matthew Hurles treated the group to a fascinating and informative presentation and discussion about the DDD Deciphering Developmental Disorders project. 

The group were full of curiosity and questions and we wished we could have stayed all day! 

Cambridge Rare Disease Network - Wellcome Genome Campus Lecture and Tour 1
Cambridge Rare Disease Network - Wellcome Genome Campus Lecture and Tour 2
It was interesting to hear how they were re-looking at those not diagnosed the first time round and getting more results
Sue

Pitt Hopkins UK

Being a lay person I found the content easy to follow and definitely learned new information. 
Angela

Action Duchenne

Amazing! Really interesting and wish we had more time. It would be great for them to give us more understanding – why do genes go wrong? 
Sue

Unique Feet parent

What lessons were learnt from the DDD project?

Exome sequencing is cost effective for diagnosis now
Sequencing parents enables rapid, accurate interpretation
Sharing data across centres:
increases the accuracy of diagnosis
increases discovery of new genes
model for translational research in other disease areas
Informatics underpinning is essential
Up front capture of clinical information is critical
Expert-curated knowledge underpins clinical interpretation
Regular re-interpretation of undiagnosed patients
Barriers to translation into existing NHS genetics services

Cambridge Rare Disease Network - Wellcome Genome Campus Lecture and Tour 3
Cambridge Rare Disease Network - Wellcome Genome Campus Lecture and Tour 4
Cambridge Rare Disease Network - Wellcome Genome Campus Lecture and Tour 5

WP Feedback

Dive straight into the feedback!
Login below and you can start commenting using your own user instantly

CRDN sign up to newsletter

Sign up to our monthly newsletter packed with news & events. Join our thriving rare disease community.

 

You have Successfully Subscribed!