EURORDIS Press- Paloma Tejada, Director, Rare Diseases International (RDI), delivered an official statement at the World Health Assembly of the World Health Organization (WHO) in Geneva at the end of May. The statement is the product of a collaboration between a number of organisations holding the status of ‘special relations with the WHO’ (Thalassaemia International Federation, World Federation of Hemophilia, International Alliance of Patients’ Organizations and March of Dimes) and the umbrella organisations that are members of the NGO Committee for Rare Diseases, including EURORDIS, Ågrenska, the International Alliance of Women, the International Federation for Spina Bifida and Hydrocephalus, and RDI. The statement called on WHO Member States to “not leave behind significant but often neglected rare diseases” and to promote national rare disease strategies, advocate for available and affordable medicines, and develop synergies across borders to ensure access to timely, appropriate and effective diagnosis and treatment.

Statement as agreed at the 3rd ISNS European regional meeting, Seville (spain), November 2004

Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation Hermann Heimpel, Volker Anselstetter, Ladislav Chrobak, Jonas Denecke, Beate Einsiedler, Kerstin Gallmeier, Antje Griesshammer, Thorsten Marquardt, Gritta Janka-Schaub, Martina Kron, and Elisabeth Kohne.

You can access the PDF, here.

New research provides insights into the genetics underlying a debilitating kidney disease in children.These  remarkable findings which were published in the Journal of American society of Nephrology (JASN) ,attract specialists’ attention in that particular field.

Genome Editing Might Be ‘Cure’ for Rare Diseases But Ethical Guidelines Needed, Panel Says

 ECRD 2018 – Should scientists have the right to edit the genes of future generations to eliminate hundreds, if not thousands, of potential rare diseases? Or should researchers restrict their use of genome editing to somatic cells, so that they don’t pass changes on to the next generation?

Today, advocate and patients are becoming drivers in the rare disease community, but it will be hard to make strides without coming together and working towards the same goal. Join us for this RARE Webinar to discuss how foundations can break down any barriers and work together to achieve foundation and rare disease goals. Gain advice and learn best practices from those who have already taken the first steps in cross foundation collaboration.

If you are unable to attend the live webinar, still register so you can receive a link to the recorded content.Don’t forget, to access this webinar use the password: “Rare” with a capital “R”

This Webinar is Proudly Sponsored by

Webinar to discuss the legal incorporation of RDI and overall Action Plan for 2018

On Monday 23 April, 2:00pm – 3:30pm, Zoe Alahouzou, Deputy to Chief Executive Officer of EURORDIS and Paloma Tejada, Director of Rare Diseases International, held a webinar to go over the Statutes of the new organisation and the details of the agreement with EURORDIS for continued support. This was also be the opportunity to discuss with Members, RDI’s 2018 Action Plan in view to its adoption at the Membership Meeting in Vienna.

Global Genes

The purpose of the webinar was to provide the Epidermolysis Bullosa community with accurate and up to date information on the results of the phase three trial of SD-101. As you know, on September 13th, 2017 Amicus Therapeutics Announced that top-line data from the randomized, double-blind, placebo-controlled Phase 3 clinical study (ESSENCE, SD-005) to assess the efficacy and safety of the novel topical wound-healing agent SD-101 did not meet the primary endpoints or secondary endpoints in participants with epidermolysis bullosa (EB). Amicus Therapeutics is committed to ensuring that the Epidermolysis Bullosa community is provided with the results of the phase three trial of SD-101 and would like the opportunity to present this information to the community via webinar.

Rare Diseases Foundation of Iran

Holly Shrine Imamzadeh Saleh

Tehran-Iran

10-25 July , 2017

A medical charity plan including screening, diagnostic, therapeutic, and rehabilitation services planned and held free of charge for all the people who were welcomed and joined the venue during 15 days. Each day, 150 patients examined by RADOIR’s doctors and specialists. It was made totally 375 patients by the last day.

Mohamed Azmi , Ahmad Hassali

Orphanet Journal of Rare Diseases2016

 Background:

The state of rare diseases

Rare diseases are serious and can be life threatening. Even where treatment is available, the disease will likely be a lifetime condition for the patient. While they are characterized by their rarity (less than 1:2000 in Europe, 1:1500 in United States of America, or 1:2500 in Japan), they can collectively affect 1 in 15 persons worldwide .Therefore, while the prevalence of rare