World population affected by a Rare Disease

New evaluation of the world population affected by a Rare Disease :

In an article published by Orphanet, Orphanet Ireland and Eurordis, the prevalence of rare diseases is of 3,5 to 5,9 % of the worldwide population.

Rare cancers, infectious diseases and poisoning are excluded from this prevalence.

Thus there is an approximate average number of people affected by a rare disease of 300 million worldwide.

(©orphanews 2019.10.08)

ERN-Skin Board Meeting 2019

ERN-Skin Board Meeting in Necker Hospital in Paris.

Two days of intense work, whether in plenary session or in thematic groups.

 

Patient representatives could express their wishes and dialogue with doctors and researchers to establish together the roadmap for the coming years.

There is a huge amount of work to do but our will and synergy will allow diagnosis, care and treatment for patients to improve at the European Union level

 

CHINESE ADVANCES

CHINA 

An article published in Bioscience Trends acknowledges the great recent advances in the area of the needs of patients affected by rare diseases, but also highlights the recurrent difficulty in diagnosis and misclassifications.

As a whole they emphasise the need for a more comprehensive and complete healthcare and social care system and advise the implementation of regional plans.

(© orphanews 2019.09.18)

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

UN Special Rapporteur calls for support for Rare Disease community

UN Special Rapporteur calls for support for Rare Disease community in report to UN General Assembly

Catalina Devandas, UN Special Rapporteur for the Rights of Persons with Disabilities, presented her report to the UN General Assembly. In particular, it states that the lack of accurate diagnosis and effective treatments for the majority of rare diseases is a global challenge. It calls on states to develop and implement policies and practices that target the most marginalised groups of people with disabilities (for example, people with multiple or severe disabilities and rare diseases) in order to improve equity in term of access to care.

(© Orphanews 2018.12.04)