ICORD is an International Society for all individuals actively involved in rare diseases and/or orphan drugs, including health care, research, academic, industry, patient organisations, regulatory authorities, health authorities, and public policy professionals. The mission of ICORD is to improve the welfare of patients with rare diseases and their families world-wide through better knowledge, research, care, information, education and awareness. One of the main activities of ICORD is the organisation of the ICORD annual meetings, which have been successfully arranged ten times all over the world.

A 6-year-old girl named Kamiyah who every day experiences several spell where her entire body freezes up – her lungs, her muscles, everything.

With Kamiyah, we’re not necessarily looking for a diagnosis, as NIH ( National Inistitute of Health) has identified the gene mutation causing these spells. We’re trying to help Kamiyah and her family find more people with this condition, so they can learn about it and potentially find some relief.

Join Us and help us to Raise Awareness of Acute Necrotizing Encephalopathy on 31st July 2018

ANE International believes that raising awareness of Acute Necrotizing Encephalopathy will save lives. With initial symptoms being typical of viral illness and many cases being from influenza, many ANE patients are initially turned away from hospital emergency rooms. In most cases the patient is already showing unusual symptoms which are overlooked. These may include double vision, unsteadiness of gait, vomiting and extreme lethargy, some are already having seizures which if initially brought under control are put down to febrile seizures.

By Dr. Hamid Reza Edraki, RADOIR Managing Director

Vienna has always been the symbol of love and romanticism for me. How lucky I am, for the headquarters of Joint European Rare Diseases Society was located in the realm of music and timeless fine arts. The second reason for my happiness is the location of the European Radiology Association in the heart of Vienna. Eventually, the German language is another reason to remind me all the memories belonging to those days I was studying in Germany and Austria .

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

The PDF is available, here.

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.

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?

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.

The European Conference on Rare Diseases & Orphan Products 2018 Vienna brought together over 800 participants from 58 countries and 120 speakers in Vienna to discuss how to shape the future to improve the lives of people affected by rare diseases. Now available: posters and photos from the conference, speaker presentations, a video of the opening and plenary sessions, and also a video of the inspiring patient testimony given by Maria Prähofer, who is living with MPS IVA, Morbus Morquio.

National Academies of Sciences, Engineering, and Medicine; Health and Medicine Division; Board on Health Sciences Policy; Roundtable on Genomics and Precision Health.National Academies (US); 2018 Mar 16.