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.
Mohamed Azmi , Ahmad Hassali
Orphanet Journal of Rare Diseases2016
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
Diagnosis of Rare Inherited Diseases
Authors : William G. Newman and Graeme C. Black
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.
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.
Agreements on signing a document for Diagnosis and pharmaceutical cooperation for Rare Diseases Patients’ benefit
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