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Skeletal Dysplasia Group Autumn Meeting 2020

November 26 2020 @ 10:00 AM - 1:30 PM

|Recurring Event (See all)

One event on November 27 2020 at 1:30 PM

Mosaic Conditions with Skeletal Involvement


Draft programme (subject to change):

Thursday 26th November 2020
10.00 – 10.10   Welcome

10.10 – 10.40   Genetic overview – Nicola Foulds
10.40 – 11.20   Skin – Guest Speaker, Veronica Kinsler
11.20 – 11.50   Endocrine/Radiology – Kassim Javaid/Jo Fairhurst
11.50 – 12.20   X-linked inactivation – Sahar Mansour/Joy Barber
12.20 – 13.30   AGM

Friday 27th November
13.30 – 14.15   Clinical Cases & Founder Prize
14.15 – 14.45   Segmental overgrowth – Mohnish Suri
14.45 – 15.15   Orthopaedic talk – Ms Yael Gelfer/Ms Anna Bridgens
15.30 – 16.00   Ollier/Maffucci – David Hunt/Prem Sutaria
16.00 – 16.30   40 years since the founding of the SDG – Professor Christine Hall

16.30               Close


If you would like to take part in this meeting, please email Nicky Bishop (Secretary for the Skeletal Dysplasia Group for Teaching & Research) on nickybishop66@gmail.com. The sessions will be free for SDG Members and £15.00 for non-members.



November 26 2020
10:00 AM - 1:30 PM
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United Kingdom
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.