The following patient organisations participate in the ERN-Skin through the SKIN ePAG:
Cutis Laxa Internationale was set up on 11th November 2001, by the parents of Cécile who was diagnosed with Cutis Laxa in 1992. Its aims fits with the needs of patients and their families :
- Breaking the loneliness, induced by the rarity of this syndrome
- Working together with the medical and scientific world to improve knowledge and research
As of today we are still the only organisation worldwide. For about 20 years, CLI has allowed 422 sufferers (as of 1st June 2020) and their families to get to know each other, and to research to make huge improvement.
Marie-Claude Boîteux
SKIN ePAG Advocate
DEBRA France is an association under the French law of 1901 (non-profit), founded in 1985, bringing together patients suffering from epidermolysis bullosa (EB) and their families. Our association aims to finance research to cure the disease, but also to support the patients and their families.
EB is a group of rare genetic disorders characterised by fragility of the skin and mucous membranes, and mechanically induced blistering. EB comprises four main types – EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler EB (KEB), with more than 30 subtypes. EB is clinically heterogeneous including a broad spectrum of severity.
Contact: contact@debra.fr
Angélique Sauvestre Varela
Skin ePAG Advocate
Debra Belgium was created by patients and parents in 1998 and is run by a team of volunteers and 1 halftime employee.
We know about 130 families, all EB types together.
The treatment of EB is complex and expensive. Debra strives for better and affordable care. We work closely together with the multidisciplinary EB team at the University Hospital of Leuven, where we partly finance the “EB-nurse” project.
Debra connects EB families. They exchange practical tips and find support from each other. Debra informs families and other stakeholders through its website, brochures, newsletters and social media.
Contact: info@debra-belgium.org
Ingrid Jageneau
SKIN ePAG Advocate
PEM Friends’ main aim is to provide information, support and advice to people diagnosed with Pemphigus or Pemphigoid. Its aim is also to expand awareness of the disease in order to speed up diagnosis and improve treatment options. This information helps patients, family and carers, live better with these diseases and manage the side effects of the drugs.
PEM Friends has a Medical Advisory Board and work with the medical community as patient representatives in several studies and programs.
Contact: info@pemfriends.org.uk
Laurence Gallu
SKIN ePAG Advocate
Naevus global aims to connect people worldwide to improve the lives of those affected by Congenital Melanocytic Naevus.
Contact: president@naevusglobal.org
Marjolein Van Kessel
SKIN ePAG Advocate
CMTC-OVM is a worldwide non-profit patient organization that aims to improve the quality of life of people suffering from vascular abnormalities (blood vessel abnormalities), such as CMTC (‘Van Lohuizen syndrome’), and stimulate scientific research into these disorders.
Contact: president@cmtc.nl
Lex van der Heijden
SKIN ePAG Advocate
Genespoir is the French association for albinism. It was founded in 1995 and gathers members from France, Belgium, Luxembourg and Switzerland.
Genespoir aims to improve the lives of people with albinism and their families both in terms of social experience and medical care.
Since its creation, the association has been actively promoting research on albinism in order to improve the knowledge on the genetic and cellular mechanisms causing the condition and allow the development of therapies.
Among its missions, Genespoir provides accurate and up-to-date information on albinism to families, medical professionals and the general public. This covers diagnosis, sun protection, optimal vision correction and protection, social issues, schooling and employment. It provides support to people with albinism and their families, and informs them of their rights.
Contact: international@genespoir.org
Antoine Gliksohn
SKIN ePAG Advocate
p63 Syndrome E.E.C International Onlus is an INTERNATIONAL non-profit association founded in 2009 with the aim of supporting activities in support of people suffering from rare diseases. The primary mission of the association is to raise public awareness on rare diseases, in particular EEC Syndrome and similar diseases, caused by the TP63 gene. While much has been done in the scientific field thanks to excellent international collaborations, much more needs to be done in the field of cellular research. In the social field, the association has been the protagonist of a great innovation: transforming the concept of “different” from the others into self-acceptance. p63 Syndrome E.E.C International Onlus is an association of social promotion formed by young people and volunteers and young professionals that aims, through numerous services and initiative Please note we are the only association for EEC Sydrome, as recognize from EURORDIS FOR wich we are an european Organization on eec syndrome and tp63 genetcs mutations.
Contact: segreteria-international@sindrome-eec.it
Giulia Volpato
SKIN ePAG Advocate
Selbsthilfegruppe Ektodermale Dysplasie e.V. is a charity covering the German-speaking countries Germany, Austria, and Switzerland. We provide information and support and work together with professionals and researchers. We are raising awareness and facilitate networking amongst the families. Our aim is to improve the health and daily live for people whose lives are affected with Ectodermal Dysplasia.
Contact: andrea@ektodermale.dysplasie.de
ulrike@ektodermale.dysplasie.de
Ulrike Holzer
SKIN ePAG Advocate
Who we are:
Caring Matters Now is the UK charity supporting those affected by Congenital Melanocytic Naevi (CMN)
Our Vision:
We have a vision of a world where no one suffers from CMN.
Our 3 areas of work:
- supporting those affected by CMN
- funding pioneering research to find a cure for CMN
- raising national and international awareness of CMN
Contact: info@caringmattersnow.co.uk
Jodi Whitehouse
SKIN ePAG Advocate
The Ectodermal Dysplasia Society, based in the UK, became a charity in 2001 to support families affected by Ectodermal Dysplasia (ED) by providing much needed information and signposting to medical professionals who have experience of this condition. We continue working for our ED community around the UK bringing families together, increasing awareness and providing support.
Contact: info@edsociety.co.uk
Diana Perry
Skin ePAG Advocate
The Patients’ Association HS Denmark works for people with hidradenitis suppurativa (HS) in Denmark. Our primary focus is to raise awareness of HS, and provide information about HS among patients, health care professionals, and in society, including politicians. Furthermore, we support HS patients, create networks, and represent Danish HS patients.
Contact: info@hidrosadenitis.dk
Bente Villumsen
SKIN ePAG Advocate
LUPUS EUROPE, established in 1990 (formerly known as ELEF), is the European non-profit umbrella organisation that unites national lupus patient organisations throughout Europe. LUPUS EUROPE’s mission is to empower and support its member organisations, fostering information exchange, and promoting better patient-centred processes, both within the healthcare field and at a political level.
LUPUS EUROPE also works tirelessly to improve access to healthcare for all lupus patients, advocating on their behalf at EU level. LUPUS EUROPE has grown to represent a majority of Europe’s key countries, collectively representing over 30,000 patients.
Contact: annemarie@lupus-europe.org
Annemarie SLUIJMERS
SKIN ePAG Advocate
Associated thematic group
