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Mitochondrial Medicine Virtual Conference

November 30 @ 2:00 pm - December 2 @ 2:00 pm

Mitochondrial disorders have emerged as a major cause of inherited human disease. Although the past decade has seen major advances in our understanding of their genetic basis and the underlying pathology, these findings have yet to translate into new therapies. There is a growing appreciation that new treatments will only emerge through a concerted collaboration between clinicians, laboratory scientists and the life sciences industry, based on a firm understanding of the disease mechanisms.

This conference will build new partnerships that harness our understanding of the disease mechanisms, accelerating the pace of effective treatments for mitochondrial diseases.

Topics will include:

  • Mitochondrial medicine – pharma and funding perspectives
  • Pre-clinical mitochondrial disease models
  • Clinical trials
  • Informatics and data sharing to support precision medicine
  • Regulatory guidance for therapeutic development

Virtual networking sessions will be included.

Abstract deadline is 6th October 2020 and registration deadline is 23rd November 2020. Please see the Wellcome Genome Campus website for more information.

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.