Loading Events

« All Events

  • This event has passed.

Genomics of Rare Disease

March 25 @ 12:30 pm - March 27 @ 2:00 pm

Genomics of Rare Disease Conference

Wellcome Genome Campus is holding a 3 day conference on rare disease, presenting a blend of genomic science and clinical medicine.

The programme features the latest findings related to the genomic basis of rare diseases, providing powerful insights into human biology, disease mechanisms and therapeutic approaches. As genomic sequencing becomes more available in the hospital setting, we also examine the opportunities and challenges for clinical practice.

This conference provides an excellent multi-disciplinary forum for clinicians (consultants and trainees), research and clinical scientists, bioinformaticians and technology developers interested in understanding the impact of recent advances in genomics and technology on the care of patients with rare diseases.

Topics will include:

  • What’s new in rare disease?
  • Informatics
  • Developmental genetics
  • Functional genomics
  • Beyond the coding genome
  • New therapeutic approaches

Find out more about this programme on Wellcome’s website. 

Venue

Wellcome Genome Campus
Wellcome Genome Campus
Hinxton, Cambridge, CB10 1SA United Kingdom
+ Google Map
With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here
 
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
 
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
 
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.