RDI has signed a collaboration agreement with WHO to start the journey towards a global network of centers of excellence for rare diseases

FDA approved “Fedratinib” (Inrebic) capsules for rare adult patients with special forms of Myelofibrosis.

Trikafta (elexacaftor/ ivacaftir/tezacagtor) as the first triple combined therapy for CF mutation has been approved.

Researchers at Danish Project iPSYCH & the Broad Institute in USA have found a common genetic risk for autism. The discovery means the determination of genes by separating the diagnosis groups and making more exact diagnoses will be accessible in the future.

A study carried out by iPSYCH shows that particular genetic variants in the human genome that are important for the development of the brain early in the life of the fetus are frequently found in psychiatric disorders.

Scientists at Scripps Research have found an important immune system-regulating protein in principle could be targeted to treat cancers and chronic viral infections.

The scientists, in a study published November 12 in Nature Chemical Biology, set out to determine the function of a protein, ABHD12, whose absence causes a rare genetic disease featuring a host of brain and nerve problems.

ECRD 2018 took place on 10-12 May 2018, at Messe Wien Congress Center, Vienna, Austria.

“Rare Diseases 360° – collaborative strategies to leave no-one behind” was the overarching theme of ECRD 2018. This theme reinforces the unique quality of this foremost event for the rare disease community in Europe, bringing together and facilitating effective policy discussions between all rare disease stakeholders. It also encompasses the comprehensive range of topic areas covered at the conference and the viewpoint of rare disease patients as equal experts, representing all rare diseases, across borders.

“Is your Child growing normally? Find out! Because a child’s growth is a major sign of their health.”

ICOSEP ( International Coalition of Organizations Supporting Endocrine Patients) _ For decades there has been battle over misunderstanding that children’s growth is a cosmetic. It has been very frustrating as ICOSEP have helped to identify children with brain tumors, adrenal issues and much more who were failing and growth was a major symptom which was discounted. They  have made too much effort to raise the public awareness. The only reference resource book correlates to growth is compiled and is free to download: Click Here

 Iran signed the UHC2030 Global Compact and we warmly welcome them to the partnership. 

The experience of Iran over past decades and most recently with the Health Transformation Plan (HTP) shows the importance of developing and maintaining health systems with a strong foundation in primary health care and local participatory processes to ensure that health needs are met in an affordable way. The recently-launched National Health Assembly demonstrates the unique role of civil society and community representatives in mobilizing political commitment for universal health coverage (UHC), providing a viable link from local-level to national participation and decision-making.