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. We often invite young researchers and representatives from medical and biotechnological institutes and colleges to such meetings. As a rule, after the reports of all the invited speakers and partners, students organize a debate where urgent problems related to the education development system and the activities of state programs for the care of patients with rare diseases are raised. With the support of one of the sponsors, the winner of the debate gets the opportunity to buy a business plan for his future startup, for example, the creation of a modern rehabilitation center.

Published 10/11/09

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

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.

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.

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

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.

Published 26/06/09

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

 

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: 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

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

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.

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.

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.

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

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