ERN-Skin Newsletter

Winter 2020

 
   
 
   
 

Celebrate the Rare Disease Day with the ERN-Skin! 

 
 
   
  
 
 

Black pearl award: Congratulations to the EB-Haus! 

The EB-Haus, an ERN-Skin member,  received the Holistic Care Award this year! The black pearl award rewards its holistic approach to delivering multi-disciplinary care for patients living with Epidermolysis Bullosa. 

 
   
   
  
 
 

“The Story of My Skin”: get out your paint brush!

The ERN-Skin takes part in the Rare Disease Day by supporting the art contest “The Story of My Skin”. Get out your paint brush!                   

www.thestoryofmyskin.org  

 
   
  
 
 
 
 
   
  
 
 

A successful training in Ghent

The 3rd edition of the ERN-Skin live training was held in Ghent, Belgium on the 16th of December. The course accredited by UEMS European CME credits focused on: Mendelian connective tissue disorders, Cutaneous diseases related to DNA repair disorders, Hidradenitis suppurativa, Cutaneous mosaic disorders, naevi and nevoid skin disorders, complex vascular malformations. ePAG Skin addressed patient needs and the importance of patient-centered care. 

 
 
 
 
 

Emergency cards are available!

Following the release of the ectodermal dysplasia emergency cards in 2019, the first emergency cards for Epidermolysis Bullosa are now ready! Compact and translated into national languages, they ensure better management of patients. “Should have had this, years before", as one patient mentioned.

 
   
  
 
   
  
 
 

Improve the management of your patients thanks to the CPMS

The enrollment on CPMS has significantly increased for the ERN-Skin: 30 active users in September 2019, 50 in January, more than 80 in February!The 9 ERN-Skin thematic groups are organizing panels. The two recent consultations within the hidradenitis suppurativa enable to agree on a treatment for a complex case.

 
 
 
 
 

ERN-Skin registry successful application

From 2020, the ERN-Skin registry project is co-funded for 3 years by the European Commission. The ERN-Skin plans to:

  • Establish a new meta-registry for rare and undiagnosed skin diseases taking into account ERN-Skin members’ existing registries and the ones without any registry yet,

  • Link existing patient registries with the newly established registry,

  • Push the information from that registry into the European Rare Diseases Registry Infrastructure

The ERN-Skin, GENTURIS and ITHACA are working together on a common IT solution.

 
 
 
 
 

ePAG Skin news

 
   
  
 
 

Patient journey

The ePAG is developing the 'patient journey', to reflect the natural history of a rare skin disease and the needs of the patient along the stages. 

 
   
  
 
 

ePAG Skin in the Executive Committee

Flavio Minelli left the Executive Committee and was replaced by Marie-Claude Boiteux. We are grateful to Flavio for his great involvement and we are very pleased to welcome Marie-Claude Boiteux!

 
 
 
 
 

Save the date!

 
 

ERN-Skin meetings

April 3, 2020 - Paris, France 

Executive Committee meeting - Open to the chairs of the thematic and transversal groups and to the 2 ePAG representatives  


October 1 & 2, 2020 - Zagreb, Croatia

Board Meeting, hosted by the University Hospital Centre Zagreb 

  • Oct. 1, from 16:00: board and executive committee meetings

  • Oct. 2, from 9:00 to 16:30: thematic group meetings

 
   
  
 
 

The 5th European Days of Albinism

April 1-4, 2020 - Bordeaux, France 

The 5th European Days of Albinism are co-organized by Genespoir, the French Albinism Organization, and Albinism Europe.                                                                 https://5eda.albinism.eu/

 
 
 
 
   
  
 
   
  
 
 

The European Joint Programme on Rare Diseases calls

 
 

If you wish to submit an application, please contact coordination@ern-skin.eu

 
 

Networking Support Scheme 

Through workshops and conferences, it aims to encourage sharing of knowledge on rare diseases and rare cancers of health care professionals, researchers and patients.                                       https://www.ejprarediseases.org/index.php/networking-support/

 
 

Clinical Trials Methodology Demonstration Projects

It aims to show the usability of the innovative statistical methodologies for clinical trials in rare diseases, which have not been demonstrated on existing data for specific rare disease clinical trials yet. https://www.ejprarediseases.org/index.php/clinical-trials-met-dem-projects-call/

 
 

Research Mobility Fellowship 

It aims to fund PhD students and medical doctors working in ERN-member institutions to undertake short scientific visits up to 3 months fostering specialist research training abroad within one of the ERN host institutions. https://www.ejprarediseases.org/index.php/training-and-empowerment/ern-trainings/

 
 
 
 
 
 

Participation to the ERKNet study on the Birt-Hogg-Dubé Syndrome

 
 
   
  
 
 

ERKNet members are currently working on a study on Birt-Hogg-Dubé (BHD) Syndrome. The research group led by Dr. Andrea Ballabio is focused on the molecular mechanism underlying this disorder, in particular on autophagy and mTOR signaling dysregulation. ERKNet is looking for getting in contact with clinicians who are treating (or have treated in the past) patients with this syndrome and ideally have kept biological material. 

If you are interested in this disease and willing to participate in the study, please contact coordination@ern-skin.eu

 
 

Co-funded by the European Commission