Rare Disease Day 28th February 2019

Join us to celebrate Rare Disease Day on 28th Februrary.

February 21, 2019/by Marie-Claude

ARTERYLASTIC : First real therapeutic hope

ARTERYLASTIC : First real therapeutic hope for vascular issue…
January 21, 2019/by Marie-Claude


Since last July, Mina (Irak), Aimee (USA), Gül (Turquie), Rhett…
January 18, 2019/by Marie-Claude

“He is a real scamp”

12th January 2018 :

Article in Voralberg' newspaper (Germany)…
January 12, 2019/by Marie-Claude

28th February 2019 : Rare Disease Day

Show your Rare, Show you care

28th February will be the International…
January 10, 2019/by Marie-Claude

And also in 2018………

19th November 2018 in Sireuil (Charente - France), the Triathlon…
December 31, 2018/by Marie-Claude

Mohammed’s new life in Germany

28 Décembre 2018 :

Mohammed’s new life in Germany (Mohammed…
December 28, 2018/by Marie-Claude

Paris Dermatological Days (JDP)

13th December 2018 in Paris, we ended the year on a high…
December 13, 2018/by Marie-Claude

UN Special Rapporteur calls for support for Rare Disease community

UN Special Rapporteur calls for support for Rare Disease community…
December 4, 2018/by Marie-Claude

Cross-border care : 10 patient errors

European Commission publishes 10 patient errors in cross-border…
December 4, 2018/by Marie-Claude

4th Conference on European Reference Networks (ERN)

21st-22nd November : The 4th Conference on European Reference…
November 21, 2018/by Marie-Claude

Chiara, RAI2 (Italian television), broadcast DettoFatto

16th November 2018 :

RAI2 (Italian television), broadcast…
November 16, 2018/by Marie-Claude

3rd FIMARAD National Day

In Paris, on 16th  November 2018,  the 3rd (Rare Dermatological…
November 16, 2018/by Marie-Claude

EURORDIS-Rare Barometer Voices

EURORDIS-Rare Barometer Voices (24.10.2018)

Results of the…
October 24, 2018/by Marie-Claude

Many thanks to the volunteers of Malakoff Mederic Friends’ Group

On 11th October 2018, in Annecy (Haute-Savoie, France), Mrs Girol…
October 11, 2018/by Marie-Claude

Alabama Rare Diseases Advisory Council

Alabama Rare Diseases Advisory Council held its first meeting

October 10, 2018/by Marie-Claude

Prevalence of Cutis Laxa

Orphanet has just issued the new figures of rare disorders prevalence…
September 30, 2018/by Marie-Claude

Musical “summer” at the Parc Fantasia

On 5th august 2018, on the occasion of the "musical-evenings"…
August 5, 2018/by Marie-Claude


375 patients spread over 59 countries across 5 continents: this…
July 31, 2018/by Marie-Claude

Improving life journey for children suffering from rare disorders

The partnership signed, 3 years ago, between Fondation Groupama…
July 10, 2018/by Marie-Claude

« Marie-Claude Boiteux, a volunteer mother fighting for her daughter suffering from an orphan disorder »

Le Dauphiné Libéré 2018.02.07
June 30, 2018/by Marie-Claude

Funding the French Centers of Reference

From several months and continuing, the Public Authorities have…
June 30, 2018/by Marie-Claude


The specific European Reference Network concerning Cutis Laxa…
June 30, 2018/by Marie-Claude

9th European Conference on Rare Diseases

10th to 12th May : European Conference on Rare Diseases in Vienna…
May 10, 2018/by Marie-Claude


The organisation « Our Little Stars » welcomed us for a day…
April 8, 2018/by Marie-Claude

A New Type of Cutis Laxa

In March, the American Journal of Medecine Genetics published…
March 31, 2018/by Marie-Claude

« French people and Rare Disorders »

This is a survey carried out for the ‘Fondation Groupama’.…
March 28, 2018/by Marie-Claude

Brexit: How might it affect health and healthcare in the UK

A study published in The Lancet approaches the Brexit situation…
February 15, 2018/by Marie-Claude
ERN logo

European Reference Networks (ERNs)

After a whole year of tangible work, we need to take stock of…
February 2, 2018/by Marie-Claude

Extension of the care leave for the parents of children with disabilities in Belgium

On 22nd January, during the National Council on Work, the Belgian…
January 22, 2018/by Marie-Claude

Italy – Leaflet new national rights in healthcare

Italy : The National Observatory on Rare Disorders (OMAR…
January 9, 2018/by sonja

Research on Cutis Laxa in Europe

ERN-Skin’s aims are, among others, to improve patients’…
January 4, 2018/by sonja

We are happy to welcome the brand new members :

Laurie and Zachary, Charlotte, Addison, Andrei, Alexandra, Juan…
January 2, 2018/by sonja

EURORDIS published the results of the first European survey on the social impact of rare disorders :

According to this survey, rare disorders have a major impact…
January 2, 2018/by sonja

Luxemburg : First Information Meeting on the Future National Plan on Rare Disorders

It has been estimated that 30,000 people suffer from a rare disorder…
January 2, 2018/by sonja

China : Public Attitudes towards Gene Therapy

A study published in Molecular Therapy identifies public attitudes…
January 2, 2018/by sonja

Charente Libre « A woman with disabilities fights to get her hydrotherapy paid for by public health insurance »

21st December Charente Libre (French Newspaper): « A woman with…
December 21, 2017/by sonja
ERN logo

European Reference Networks and RD-ACTION are tackling challenges concerning Clinical Practice Guidelines

(Orphanews 2018.12.19)

RD-ACTION set-out to add value by working…
December 19, 2017/by sonja

Christmas Market in Cruseilles

9th and 10th December : SolHand and Cutis Laxa Internationale…
December 10, 2017/by sonja

Le Temps (Swiss Newspaper) : « Cécile, Fighting is in her Blood ». Interview/portrait

December 9, 2017/by sonja

Brin d’Aillet Run and Triathlon of Sireuil hand over a cheque to CLI

The organisers of the Brin d’Aillet Run and Triathlon…
November 29, 2017/by sonja

Charente Libre (French Newspaper) : CLI Receives the cheque from Brin d’Aillet run and Triathlon of Sireuil

November 29, 2017/by sonja

Dr Pascal Sommer took part in CNRS forum

Dr Pascal Sommer took part in CNRS (French National Centre for…
November 28, 2017/by sonja

European Commission launches its Horizon 2020 Health Research Programme 2018-2020 including rare diseases

(Orphanews 2018.11.28)

Within the call « Better Health and…
November 28, 2017/by sonja

Inter (National French Radio) Broadcast « Head squared »: interview of Dr Pascal Sommer presenting the CNRS Forum

Listen online
November 21, 2017/by sonja
2017-11-28-ERN Paris

ERN-Skin Meeting (Paris)

120 attendees, doctors, researchers and patient representatives…
November 20, 2017/by sonja

EURORDIS Launched a new network of European members of the Parliament lobbying for Rare Disorders

On October 17th, Eurordis, a non-government alliance for patients…
October 17, 2017/by sonja

The French government launched its official website dedicated to disability

On 5th July the French government launched its official website…
July 5, 2017/by sonja

New mutations (ATP6V1E1, ATP6V1A)

ATP6V1E1 or ATP6V1A, are the new mutations recently published…
July 1, 2017/by sonja

Petition ProRaris

ProRaris, Swiss Federation for Rare Disorders launched a petition…
June 30, 2017/by sonja
ERN skin

Patient representative for connective tissue disorders

When the European Reference Networks (ERN) was set up, The European…
June 24, 2017/by sonja
ERN skin

Patient Representatives’ role and responsibilities in ERN-Skin

Patient Representatives, gathered in the Patient Representative…
June 19, 2017/by sonja

Welcome to our Big Cutis Laxa Family

Welcome to Lynne, Mohammed, Parker, Tracey, Theo, Jessie K, Sharon…
June 18, 2017/by sonja

Annual General Meeting & Conference of Solhand (Paris)

June 10, 2017/by sonja

Kick-Off meeting « ERN-Skin » (Brussels)

26th May - In Brussels, in one of the beautiful rooms of the…
May 26, 2017/by sonja

Article on the diagnosis odyssey that rare disease patients and families face in Australia

Orphanet Journal of Rare Diseases has published an article on…
May 15, 2017/by sonja

Katy & Cecile

April 19, 2017/by sonja

FRANCE is setting up the Mobility and Inclusion Card (CMI)

FRANCE is setting up the Mobility and Inclusion Card (CMI) to…
April 7, 2017/by sonja

(NGO) Committee for rare diseases in the United Nations

The first report of the Non Governmental Organisation (NGO) Committee…
March 23, 2017/by sonja

Channel 5 « Extraordinary People » – 15th February 2017

Broadcasting the report on Zara and her mother
February 15, 2017/by sonja – 14 February 2017 Publishes a new article on Zara and her mother…
February 14, 2017/by sonja

Event Geneva (Switzerland)

February 10, 2017/by sonja

The National Rare Diseases Registry System of China (NRDRS)

CHINA recently launched its first nation-wide patient registry,…
February 4, 2017/by sonja
Annecy groupe 2016

5th Cutis Laxa Days 2016 (Annecy)

May 19, 2016/by sonja

Clinics Meeting in Pittsburgh (USA) – March 2016

March 19, 2016/by sonja

“Chocolate” weekend (France) – March 2016

March 5, 2016/by sonja