WHAT IS AN ERN (European Reference Network) ? (Videos)
Set up 3 years ago by the European Commission, they aim to help patients with rare disorders receive a right diagnosis and follow-up, gather together all European experts and Patients Organisations to allow patients to get the best care.
The European Commission, Patients and ERN Coordinators give their point of view
European Commission (in almost all European Languages)
https://audiovisual.ec.europa.eu/en/video/I-193046
Patients (in English and/or with English subtitles)
https://audiovisual.ec.europa.eu/en/video/I-191813
ERN Coordinators (in English and/or with English subtitles)
CLI VIDEO ON YOUTUBE
The French Skin Federation (FFP) has launched videos (in French) from its member organisations on youtube.
Listen to Marie-Claude Boiteux talking about Cutis Laxa Internationale
Dawn Laney, a RARE Hero
In its issue N°15, April 2020, Rare Revolution Magazine, talks about Dawn Laney, Dave Jacob’s daughter, who set up Thinkgenetic with her father. Dave is one of our members.
David Ross, a RARE revolutionary
In its issue N°15, april 2020, Rare Revolution Magazine publishes an interview with David Ross, one of our members.
ZEYNEP’S STORY
Video on SHOW TV, on facebook, about Zeynep diagnosed with Cutis Laxa
(In Turkish)
2019.12.10
Watch the video :
2 Yaşındaki Zeynep "Yaşlanma Hastalığı" ile mücadele ediyor! #ZahideYetişle
2 Yaşındaki Zeynep "Yaşlanma Hastalığı" ile mücadele ediyor! #ZahideYetişle
Publiée par Show TV sur Mardi 10 décembre 2019
Cécile suffers from a rare genetic disorder
CAFFE.ch, swiss online magazine (in Italian)
2019.05.05
Read the article on line :
http://www.caffe.ch/stories/Storie/62873_ho_appena_28_anni_ne_dimostro_il_doppio/
I AM 28, BUT MY SKIN LOOKS LIKE 65
L’illustré, swiss newspaper (in French)
2019.02.06
Watch the video : https://www.facebook.com/1081337022/posts/10215330750396949/
Read the article : https://www.cutislaxa.org/wp-content/uploads/2020/02/lillustre-2019.02.06.pdf
Helplines for Rare Disorders worldwide
| Helplines for rare disorders worldwide |
||
| Country | Organisation | Helpline & other modes of contact |
| Canada | Rare Disease Information and Resource Centre | +385 12441393 – info@rqmo.org www.rqmo.org/rare-disease-information-and-resource-centre/ |
| Croatia * | Croatian Help Line for Rare Diseases | +385 12441393 – rijetke.bolesti@gmail.com www.rijetke-bolesti.hr/rare-diseases-croatia Facebook group |
| Denmark * | Rare Diseases Denmark | +45 33140010 – helpline@sjaeldnediagnoser.dk sjaeldnediagnoser.dk/helpline/ |
| France * | Maladies Rares Info Services (MRIS) | + 33 156538136 – info-services@maladiesrares.org www.maladiesraresinfo.org |
| Germany | ACHSE Betroffenen- und Angehörigenberatung | +49 3033007080 – www.achse-online.de |
| Hungary * | Lifebelt | +36 617904533 – mentoov@rirosz.hu – mentoov.rirosz.hu/ |
| Ireland * | National Rare Diseases Office (NRDO) | +353 1800 24 03 65 or + 353 18545065 rare.diseases@mater.ie – www.hse.ie/eng/services |
| Italy * | Università di Padova, Coordinating Centre for Rare Diseases, Veneto Region | + 39 049 82 15 700 – malattierare@pediatria.unipd.it |
| Italy * | Telefono Verde Malattie Rare | +39 800896949 – https://www.iss.it/?p=171 |
| Italy * | Centro di ascolto malattie rare | +39 800 880101 – http://www.regione.toscana.it/-/centro-di-ascolto-per-le-malattie-rare |
| Italy * | Centro di ascolto per le malattie rare del Piemonte e della Valle d’Aosta | +39346.1059486 +39339.5203554 – segreteria@a-rare.it |
| Mexico | AcceSalud | accesalud@femexer.org |
| Norway | Norwegian National Advisory Unit on Rare Disorders Oslo University Hospital | +47 23 02 69 75 – liegen@ous-hf.no Helsenorge.no/Sjeldnediagnoser |
| Portugal * | Linha Rara | +351 300505700 – info@rarissimas.pt |
| Romania * | Romanian National Alliance for Rare Disease (NoRo Help Line) | +40 260611214 – office@apwromania.ro |
| Romania * | Romanian Myasthenia Gravis Info Centre | +40 744704399 – asociatia.miastenia@gmail.com |
| Serbia * | NORBS | +381 800333103 – office@norbs.rs – www.norbs.rs/ |
| Spain * | SIO Feder | +34 918221725 – sio@enfermedades-raras.org |
| Switzerland * | Infos Maladies Rares | +41 848314372 – contact@infomaladiesrares.ch www.info-maladies-rares.ch/ |
| Switzerland * | Seltene Krankheiten | +41 442663535 – selten@kispi.uzh.ch – www.kispi.uzh.ch |
| USA | GARD Genetic and Rare Diseases Information Center | +1 8882052311 |
| Wolrdwide | ThinkGenetic | https://www.thinkgenetic.com/
medical advice from Genetic counselors : https://www.thinkgenetic.com/contact-counselor |
A New Type of Cutis Laxa
In March, the American Journal of Medecine Genetics published an article showing that a mutation on the gene PTDSS1 leads to a very rare type of Cutis Laxa : Lenz-Majewski Syndrome (LMS) . It includes Cutis Laxa with growth delay, dwarfism and intellectual delay. According to this study of 3 cases, this is a new type of Cutis Laxa that needs to be added to those already identified.