YOUTUBE CHANNEL FOR RARE DERMATOLOGIC DISEASES
The French Network for rare dermatologic diseases has launched its youtube channel wher are posted videos about various issues (French talking):
Aesthetic Disability
https://www.youtube.com/watch?v=WO0FlVQ1B2k
Local Houses for Disabled People (MDPH)
https://www.youtube.com/watch?v=WO0FlVQ1B2k
Corrective Make-up
Dill Extract Induces Elastic Fiber Neosynthesis and Functional Improvement in the Ascending Aorta of Aged Mice with Reversal of Age-Dependent Cardiac
Hypertrophy and Involvement of Lysyl Oxidase-Like-1
Wassim Fhayli 1, Quentin Boëté 1, Nadjib Kihal 2, Valérie Cenizo 3, Pascal Sommer 4,
Walter A. Boyle 5, Marie-Paule Jacob 6 and Gilles Faury 1,*
1 Univ. Grenoble Alpes, Inserm, CHU Grenoble Alpes, HP2, 38000 Grenoble, France;
wassimfhayli@gmail.com (W.F.); boete.quentin@gmail.com (Q.B.)
2 Laboratoire de Phytochimie et de Pharmacologie, Département de Chimie, Université de Jijel, Jijel 18000,
Algeria; nadjib.kihal@icloud.com
3 L’Occitane en Provence, 04100 Manosque, France; val.cenizo@gmail.com
4 Institut de Biologie et Chimie des Protéines UMR5305—LBTI, CNRS, 69367 Lyon, France;
pascal.sommer@univ-amu.fr
5 Department of Anesthesiology and Critical Care Medicine Division, Washington University School of
Medicine, St Louis, MO 63110, USA; boylew@wustl.edu
6 INSERM, U1148, and Hopital Bichat-Claude Bernard, 75018 Paris, France; marie-paule.jacob@orange.fr
* Correspondence: gilles.faury@univ-grenoble-alpes.fr; Tel.: +33-4-76-63-75-39
The only article describing the stimulation in vivo of the protection and synthesis of elastic fibers.
Full article : https://www.cutislaxa.org/wp-content/uploads/2020/02/Fhayli-et-al-2020-biomolecules-Dill-mice1.pdf
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
WHO HELPS MOHAMMED ?
Same article (in Dutch) in the newspapers
“De Morgen” (Belgium) and “De Volkskrant” (Austria).
2019.12.01
Read the article online : https://www.demorgen.be/nieuws/wie-helpt-mohamad-hoe-liefdadigheid-een-syrisch-gezin-in-oostenrijk-verstikte~b0765328/
Or here : https://www.cutislaxa.org/wp-content/uploads/2020/02/De-Morgen-et-De-Volkskrant-Mohammed-2019.12.01.pdf
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/
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
ARTERYLASTIC : First real therapeutic hope for vascular issue in Dominant Cutis Laxa.
ARTERYLASTIC derives from researches lead in Lyon (France) by Dr Romain Debret. Originating from the idea that if one can make prosthetics for a joint, maybe we could make prosthestics for a failing elastin, this project is funded by the French National Agency for Research. Selected in 2018, it will start in January 2019.
The project involves 3 laboratories from the Rhône-Alpes area: Laboratory for Tissue Biology and Therapeutic Engineering (National Center for Scientific Research, Lyon), Laboratory for Hypoxia and Cardiovascular and Respiratory Physiopathologies (National Institute of Health and Medical Research, Grenoble), and Sainbiose Laboratory (National Institute of Health and Medical Research, Saint-Etienne).
The main aim of the project is to develop a synthetic elastic protein as medicine agent to improve or restore the vascular elasticity when it is failing in genetic disorders such as Cutis Laxa and Williams Syndrome, but also in non syndromic pathologies such as sleeping apneia.
This project aims to analyse the way the synthetic protein is acting and evaluate its efficiency in pertinent biological models.
The « DHERMIC » project, which preceded ARTERYLASTIC, already provided a wide set of solid data regarding the skin for the synthetic elastic protein. Recent preliminary results regarding the integration in blood vessels walls in fishes and mice are very promising.
An important part of the work will also be dedicated to the pharmacological formulation and certification to allow for the implementation of Clinical Trials at the end of the project (late 2021).
| 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 |
12th January 2018 :
Article in Voralberg’ newspaper (Germany) about Mohammed after the video report.
Read the whole article at :
https://www.vn.at/lokal/vorarlberg/2019/01/11/er-ist-ein-richtiger-lausbub.vn
28 Décembre 2018 :
Mohammed’s new life in Germany (Mohammed is a Syrian refugee suffering from CL)
(broadcast in Arabic and English in some parts)
https://m.facebook.com/story.php?story_fbid=10217703840526118&id=1183293593