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.

The honor of Rare Diseases Foundation of Iran

The present book, Normal Findings in MRI and CT, has been collected and translated by Dr. HamidReza Edraki, the assistant professor and member of faculty in Shahid Beheshti Medical of Science University and also the Managing Director of Rare Diseases Foundation of Iran. It is published by Shahid Beheshti Medical of Science University. The book compares normal and abnormal findings in MRI and Ct scan. It is including 230 pages with 7 sections consist of MRI and CT scan from head, neck, abdomen, pelvis, spin, joint, vessels and etc. It is one of the university exam references for MA and PhD. The book has been ranked as the top 10 books of the year for the International Book Fair.

The English version of the book is available, here.  

Orphan Drugs Understanding the rare disease market and its dynamics Authors : E. Hernberg-Stahl & M.Reljanovic

The Journal Rare Disorders: Diagnosis & Therapy is an open access Scientific Journal which mainly focuses on articles of rare and chronically debilitating diseases. The Journal Rare Disorders: Diagnosis & Therapy comes up with an opportunity to researchers and scientist to explore rare diseases and their therapies. The Journal Rare Disorders: Diagnosis & Therapy is of highest standards in terms of quality.

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.

A population-based registry as a source of health indicators for rare diseases: the ten-year experience of the Veneto Region’s rare diseases registry. Mazzucato M, Visonà Dalla Pozza L, Manea S, Minichiello C, Facchin P.