EUROPEAN CYSTIC FIBROSIS SOCIETY (ECFS)
 

 Summary of the ECFSDN 4th Annual Conference

Report by Dr Michael Wilschanski
 

The ECFSDN had its 4^th annual conference in Hanover Germany on 15-16^th February 2008, hosted by Manfred Ballman and Burkhard Tummler

The Network was honoured with exceptional guest speakers. Prof Sabina  Gallati from Berne gave a fascinating insight into the new  genetic methods for CF diagnosis and she included some novel information about mutation 3905insT seen only in the Swiss population and the Amish population in the US  . 

Prof Schillers from Munster presented a new diagnostic test based on cftr expression on red blood cells. The principle behind this is the hemolysis of RBC induced by Gadolinium (Gd3+) ions. RBC from CF patients are more resistant against Gd-induced hemolysis than RBC from healthy donors.  In another approach, he demonstrated the different Zn2+ sensitivity of Gd-induced hemolysis for non-CF and CF RBC. This may be of additional help to diagnose CF.

Dr Frauke Stanke from Hanover presented the continuing research from the European Twin Study.  CF twins and siblings were recruited from 158 CF centers from 14 European countries. She presented new data on the CF modifier genes, TNF and EnaC-which have been proposed. The picture is complicated by the fact that with improvement in survival, false-positive findings may be found when patients from different birth cohorts are compared.

Maarten Sinaasappel presented Diagnostic evaluation in patients with CF-like symptoms leading into a debate between Chris Taylor and Manfred Baumann as to whether ICM is better than NPD or not.

Inez Bronsfeld presented the methodological differences in electrophysiological tests in Europe. This leads the Network to seek a single operating procedure in the near future. Inez is coordinating this for the DN.

Kris De Boeck reviewed the activities of EuroCareCF including her role as leader of Work-Package 3 which includes the DN.

Harry Cuppens gave an overview of the current knowledge of ENaC in relation to CFTR function.

Christophe  Goubau and Kris De Boeck gave an update on the progress in the Algorithm Validation paper which is soon to be submitted by the DN as a follow up to the original algorithm study.

There was a lecture from Peter Middleton on his experiences doing nasal PD in Sydney Australia.  Burkhard Tümmler gave a talk on a rare mutation F508del -R553Q which in the lab was proposed to “rescue”  symptoms but in vivo this did not happen.

We were delighted that EuroCareCF provided travel grants for four young investigators who presented their research at the meeting.

Paolo Melotti from Verona presented a new diagnostic test based on peripheral monocytes which function differently in CF patients. She also presented new data on a rare mutation S977F. Fiona Healy from Dublin presented an interesting diagnostic problem in a patient with recurrent pancreatitis. Yasmin Yaakov from Jerusalem presented long term follow-up data on the use of nasal PD in CF diagnosis. Christophe Goubau from Leuven presented phenotypic characterization of patients with intermediate sweat chloride values using the Diagnostic Algorithm.

Inez Bronsfeld and Nicho Derichs presented plans for the DN website.

The next meeting will be held in Prague on the day of the Opening Ceremony, June the 11th from 14:30 until 16:30.  During this joint EUROCARECF WP3 Diagnostic group/ ECFS Diagnostic Working Group meeting, we intend to discuss any diagnostic problem, clinical, laboratory and genetic tests which are not clear to the clinician.

We invite all members of the ECFS to participate to the meeting and submit interesting diagnostic difficulties for discussion.

Cases should be submitted in an abstract format (max number of words: 500) with a clear outline of the issue to be discussed.

When submitting your input, please provide your full address, name of Institution, telephone/fax and email information. Cases should be emailed to the ECFS Office, info@ecfsoc.org no later than 28th May 2008.