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

RADOIR Public Relations- It was approved that the condition of rare diseases patients should be determined by high prevalence, disability factor, affordability and updated methods for treatments.

Diagnosis of Rare Inherited Diseases

Authors : William G. Newman and Graeme C. Black

Description:

Delineation of the genetic basis of rare inherited diseases can provide diagnostic certainty and risk assessment for affected individuals and their families. Determination of the genes that are mutated in such conditions can not only provide important insights into disease pathogenesis, but have frequently been shown to shed important light on the molecular pathology of common complex disorders, which share similar features. Crucially, disease gene identification represents the starting point for the development of novel therapeutics. This chapter describes the different types of genetic disorders – both chromosomal and monogenic – and the advances in technology, including next generation sequencing and microarrays that are driving the discovery of novel genetic mechanisms underlying human disease.

According to Eurodis News Agency:

Durhane Wong-Rig, Chair of the RDI Council, and Yann Le Cam, Chief Executive Officer of EURORDIS, sign the MoU

The vision of the Sustainable Development Goals is a world in which no one is left behind, including people who suffer from rare diseases. Just because a disease affects a small number of people does not make it irrelevant or less important than diseases that affect millions.

Rare Diseases Foundation of Iran attended the European Conference on Rare Diseases and Orphan Drugs and accepted to sign a document on Diagnosis and pharmaceutical collaboration with EURORDIS.

Open Call for NGOs to apply for Consultative Status with the United Nations (Deadline: 1 June 2018)

NGOs interested in applying for ECOSOC consultative status should submit their application and required documents on or before the deadline of 1 June 2018. The following link provides background information, the benefits of consultative status and instructions for how to apply: https://bit.ly/2ozYpVw  

The 2018 RDI General Assembly (open to RDI members only) and Annual Meeting (open to everyone interested in learning more about international rare disease initiatives) will also take place on 10 May in conjunction with ECRD.

Register to attend

On the occasion of Rare Disease Day

Rare Diseases Foundation of Iran held Genodermatoses symposium

The symposium of Rare Condition of Skin Disease (Genodermatoses) held by Rare Diseases Foundation of Iran in collaboration with Dermatology and Stem Cell Research Center and Tehran University of Medical Sciences on February, 26, 2018 in Tehran.

Rare Diseases Foundation of Iran held a Rare Metabolic and Genetic Diseases symposium for one day on December 20, 2018, in collaboration with Tehran University of Medical Sciences in Tehran.