DYSCERNE’s 2nd Partner Meeting, 15-16 October 2009 - Manchester, UK

The 2nd meeting of the DYSCERNE Partners took place on the 15th and 16th October. The meeting was attended by our Partners from France, Italy, Poland and the UK, as well as the Co-ordinating Centre staff. The progress on all aspects of the DYSCERNE project was discussed as well as future plans for expansion and sustainability. Overall the meeting was very successful and we would like to thank everyone who attended.


Published 10/11/09

 

Dyscerne educational tool International interest

Since the first Dyscerne Educational Tool, ‘Examination of a fetus with congenital abnormality’ was published online in July 2009, 50 visitors from 13 different countries have applied for access to this exciting new resource.
People from as far afield as China, Australia and the USA have logged onto the Educational Resources page on the Dyscerne website and completed the quick and easy registration process that allows them access to the Tool.
The second Dyscerne Educational Tool, ‘Examination of a dysmorphic infant’, is currently being developed – please check back here for details on when this will be made available online.
Thanks to all who have applied for use of the first in our series of Educational Tools, for those who haven’t yet registered, please click here and submit your details.
Published 20/08/09

 

DYSCERNE presence at BSHG (British Society for Human Genetics) 2009

DYSCERNE will be represented by Ruth Day, Clinical Fellow and Sara Gardner, DDS Co-ordinator at this year’s BSHG Conference on 31 Aug - 2 Sept 2009 in Warwick, UK.
We are delighted that all 3 submitted abstracts were accepted for poster presentations
 
   The titles of the 3 posters are:
  • DYSCERNE: Results from a pilot of the electronic Dysmorphology Diagnostic System (DDS)
  • DYSCERNE: Online Educational Tools for Dysmorphology - Examination of a fetus with congenital abnormalities
  • DYSCERNE: Developing a Methodology for Developing Clinical Management Guidelines for Rare Diseases
We look forward to seeing you there.
Published 29/07/09
 
 

Updated Submitting Node List now available

We are pleased to welcome centres in Lyon (France), Petah Tikvah (Israel), Madrid (Spain), Rhyl (UK) and Sheffield (UK) as DDS Submitting Nodes. These 5 new Submitting Nodes bring the total number of centres that can submit cases to the DDS to 67.

A list of all the centres that currently have DDS accounts is on the DDS Network page and will be updated as more centres apply for DDS accounts.
Published 24/07/09
 
 
 

DYSCERNE at US Angelman Conference

DYSCERNE, Project leader, Professor Jill Clayton-Smith has been invited to attend the Angelman Syndrome Foundation, Scientific Symposium & Biennial Conference on 28 July - 01 August 2009 in Orlando, USA.

This event will see one of the largest groups of Angelman experts ever brought together in one place, and will offer an excellent opportunity for Jill to get feedback about DYSCERNE’s plans to produce management guidelines for this rare and complex condition.
Please click here for the programme.

Published 20/07/09

 
 
 

First Educational tool now online

DYSCERNE is pleased to announce that ‘Examination of a fetus with congenital abnormality’, the first in a series of Educational tools is now available.

A poster on this educational tool was presented at ESHG2009 and the full contents list is also available to view here.
The aim of this Educational tool is to provide guidance to clinicians in this specialised area of dysmorphology in an easy to use online format, It is aimed at clinical geneticists, paediatricians, obstetricians, pathologist and radiologists.

It is accessible to users who register with DYSCERNE; registration is free and is open to clinicians who are not members of the DYSCERNE Network.
Full details of how to register are on the Educational Resources page.
Other titles currently under development include ‘Examination of a dysmorphic infant’.
Published 10/07/09
 
 
 

Updated Submitting Node List now available

We are pleased to welcome centres in Nicosia (Cyprus), Rome (Italy) and Bratislava (Slovakia) as DDS Submitting Nodes. These 3 new Submitting Nodes bring the total number of centres that can submit cases to the DDS to 62.

A list of all the centres that currently have DDS accounts is on the DDS Network page and will be updated as more centres apply for DDS accounts.
Published 07/07/09
 
 
 

DYSCERNE in Vienna - ESHG Conference 2009

Project Manager, Pam Griffiths and Clinical Fellow, Ruth Day represented the DYSCERNE Network at this year’s European Society of Human Genetics conference, held at the end of May in very warm and sunny Vienna.

A productive meeting of DYSCERNE’s main partners was held at which project progress and future plans for the Network were amongst the topics for discussion. Posters on each of the Network’s main activities were presented at the conference, and Pam and Ruth were very pleased with the positive feedback about the project that they received from delegates who visited them during the viewing sessions, particularly in relation to the educational tool on "Examination of a fetus with congenital abnormality". It was really good to put faces to names and chat face to face with Network Members. Over fifty people signed a sheet requesting further information about the Network, and others very kindly offered to translate the project documentation into their native languages including Slovak.

At the start of Sunday’s dysmorphology workshop, Ruth gave a brief spoken presentation on the Dysmorphology Diagnostic System. Using an example of 2 siblings that had been submitted to the system during the pilot, she gave an overview of the whole process of case submission and review. In this instance, the Expert consensus was that this was likely to be a new, recessive condition., which is an exciting outcome for one of our first cases.
 
Another high point was the signing of a letter of intent by Orphanet Director, Segolène Ayme and DYSCERNE’s Principal Investigator, Jill Clayton-Smith. The letter formalises the two organisations’ intention to work closely together wherever possible and expresses their commitment to identify areas where collaborative working would be mutually beneficial.
 
Thanks to everyone who came and said hello in Vienna. Next year, we’re looking forward to meeting many more of you at  a DYSCERNE Networking event that will take place in Gothenburg at the 2010 ESHG Conference.   Details of this event will be confirmed in the Autumn.


Published 26/06/09

 

DDS Case Submission Form

We are pleased to announce that the Case submission form (both Printable and Electronic versions) for the DDS, are now available from the DDS Documents page.

Published 22/06/09

 

Updated Submitting Node list now available

We are pleased to welcome centres in Bergen (Norway), Heidelberg (Germany), Iasi (Romania), Prague (Czech Republic), Skopje (Macedonia) and Zaragoza (Spain) as DDS Submitting Nodes. These 6 new Submitting Nodes bring the total number of centres that can submit cases to the DDS to 59.

A list of all the centres that currently have DDS accounts is on the DDS Network page and will be updated as more centres apply for DDS accounts.

Published 08/06/09
 

 

DYSCERNE presence at ESHG 23-25 May, 2009

We are delighted to report that DYSCERNE has had 3 abstracts accepted for poster presentations at
the 2009 European Society of Human Genetics conference in Vienna.
 
The titles of the 3 posters are:
  • DYSCERNE: Developing a Methodology for Developing Clinical Management Guidelines for Rare Diseases
  • DYSCERNE: Results from a pilot of the electronic Dysmorphology Diagnostic System (DDS)
  • DYSCERNE: Online Educational Tools for Dysmorphology - Examination of a fetus with congenital abnormalities
There will also be a short live demonstration (internet connection permitting!) of the Dysmorphology Diagnostic System (DDS) at the first Dysmorphology workshop (1:15pm – 2:45pm, Sunday 24th May).
 
The 4th DYSCERNE Partner meeting will be held on Monday 25th May from 10:15am – 11:15am and will be attended by the majority of the DYSCERNE Partners.
 
The Coordinating Centre will be represented at ESHG by Pam Griffiths, Project Manager, and Ruth Day, Clinical Fellow. We look forward to seeing you there.
 
Published 16/04/2009
 
 

Increasing Access to the Dysmorphology Diagnostic System (DDS)

As part of the continuing launch of the DDS, the next group of proposed Submitting Nodes have been invited to apply for DDS accounts.

Email invitations have been sent out, and we’re hoping that all 28 Submitting Nodes in this group will have access to the DDS before the end of April, giving a total of 50 Submitting Nodes.
 
Initial feedback from system users has been very encouraging; with users reporting that the case submission process is very straightforward once you have familiarized yourself with the system and user documentation.
 
The next group of proposed Submitting Nodes will be invited to apply for DDS accounts shortly.
 
Published 16/04/2009
 
 

Invitations to proposed DDS Submitting Nodes to join the DYSCERNE Network

A formal invitation to join the DYSCERNE Network was sent to all 78 proposed DDS Submitting centres or ‘Nodes’ at the end of January 2009. We have been delighted by the large number of very positive and enthusiastic replies which we have received.

We’re hoping to be able to allow these Submitting Nodes access to the DDS, in stages, starting in March 2009, with all the Submitting Nodes having access by the end of May 2009.
 
We would like to thank everyone who has agreed to become a DDS Submitting Node. We are very grateful for your interest and enthusiasm for the project.
 
Thanks also to those centres that have expressed an interest in becoming a submission node when the Network increases the number of nodes. We are hoping to be able to do this over the next year or so. If you would like your centre to be added to our waiting list of potential submission nodes, please email with your details.
 Published on 24/03/2009
 
 

Management Guidelines Development Update

DYSCERNE is currently developing clinical management guidelines for Angelman, Kabuki, Noonan and Williams Syndrome.

Developed using an adapted, SIGN methodology, the finished guidelines will be available for download from the DYSCERNE website.

Clinical leads for each of these syndromes have been chosen and literature searches are underway.

A management consensus meeting for the panel of expert reviewers involved in creating the Williams Syndrome guidelines is taking place in May 2009, with a UK pilot to follow.

More details on this aspect of our work programme are available on the ‘Guidelines’ page.

 

DDS Pilot Update

The DDS Pilot has now been running for 2 months and despite starting just before the Christmas holiday period the response from everyone involved has been very positive.

There are currently 13 accepted cases on the DDS which have all been submitted by the DYSCERNE Partners. Users have reported relatively few problems with the system and after the first time, case submission can take as little as 20 minutes if the case submitter has all the required information to hand.
For the 4 earliest accepted cases a preliminary DYSCERNE Expert Case Report has already been produced and sent to the Case Submitter. However as the DDS Pilot was extended on the 18th February 2009, to include the full DDS Expert Panel, these DYSCERNE Expert Case Reports will be updated at the end of the DDS pilot which will give all the DDS Experts the chance to offer their opinions on these cases.
The other 9 accepted cases are newer and following review by the full DDS Expert Panel we are hoping to produce the DYSCERNE Expert Case Reports for these cases within approximately 4 weeks of the date the case was accepted.
 

Rare Disease Day 2009!

Rare Disease Day, February 28, 2009

The main objective of Rare Disease Day 2009 is to raise awareness with policy makers and the public of rare diseases and of their impact on patient's lives.

Rare diseases are chronic, progressive, debilitating, disabling, severe and often life-threatening. Information is scarce and research is insufficient.People affected face challenges such as diagnosis delay, misdiagnosis, psychological burden and lack of practical support.Many rare disease patients are denied their right to the highest attainable standard of health and continue to advocate their need to overcome common obstacles.

 For more information please click here

DDS Pilot

DDS Pilot started December 2008

DYSCERNE is pleased to announce that the pilot of the Dysmorphology Diagnostic System (DDS) started on the 19th December 2008. This pilot involved 7 centres submitting cases to the DDS which were reviewed by the DYSCERNE Partners.

This first stage of the pilot progressed fairly smoothly with relatively few user problems and was therefore extended to include the full DDS Expert Panel reviewing the accepted cases, on the 18th February 2009.
After the completion of this second stage of the pilot the DDS will be launched in phases.
The first phase of the full DDS launch will be to allow the members of the Expert Panel to submit cases. The second phase will add the other submitting nodes in partner and Expert countries, with support offered by DYSCERNE Partners and Experts as well as by the coordinating centre. The final phase will bring onboard all the remaining proposed DDS submitting nodes.
Each phase is currently expected to last 3-4 weeks but this is dependant on how much support the coordinating centre is required to provide to the system users.
It is hoped that all 76 proposed submitting nodes will have access to the DDS by the beginning of May.