RADOIR NEWS – The medical and healthcare services and activities of Rare Diseases Foundation of Iran in the field of health were encouraged at the official meeting session with the heads of neighborhood doctors’ community and Board of Directors of Tehran Medical Center which was held in the presence of deputy of the General Manager of district 6 of Tehran, Mr. Habibolah Ghafouri, on the occasion of the Doctor’s Day.

RADOIR delegation will attend at 2018 International Epigenetics and Epitranscriptomics Conference which is held on 26-27 Nov., 2018 in Helsinki, Finland

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.

A male fetus is detected in 32 weeks of gestational age via Trans-abdominal sonography, right unilateral phocomelia diagnosis.

RADOIR NEWS- A type of congenital and genetic disorder was diagnosed in a male fetus after applying Fetal MRI 3 days before birth delivery by Dr. Hamid,R. Edraki, head of radiology section at RADOIR.

Two scientific articles on rare diseases received submission approval by SciTechnol Editorial Managers

RADOIR NEWS – SciTechnol is an international publisher of science, technology and medicine, also one of the media partners for 2018 World Congress on Rare Diseases 2018 in Dubai.

A new study published in Molecular Genetics and Metabolism, conducted by a Liverpool based research collaboration involving the University of Liverpool, has identified the drug that treats the extremely rare genetic disease alkaptonuria (AKU) which is called nitisinone stops the progress of AKU also known as black bone disease.

AKU is an iconic genetic disorder characterised by deficiency of the enzyme homogentisate dioxygenase, resulting in accumulation of homogentisic acid (HGA).

Orphan medicinal products in Europe and United States to cover needs of patients with rare diseases: an increased common effort is to be foreseen.

Author information

1. Fondazione per la Ricerca Farmacologica Gianni Benzi onlus, Via Abate Eustasio, 30 – 70010, Valenzano, Italy. vg@benzifoundation.org.
2. Fondazione per la Ricerca Farmacologica Gianni Benzi onlus, Via Abate Eustasio, 30 – 70010, Valenzano, Italy.
3. Consorzio per Valutazioni Biologiche e Farmacologiche, Via L. Porta, 14 – 27100, Pavia, Italy.
4. Istituti Clinici Scientifici Maugeri SpA SB, Via Salvatore Maugeri, 4 – 27100, Pavia, Italy.

Orphan drugs in the United States of America

As early as 1983, the Public Health authorities realised that legislation on orphan drugs was needed signing of the ‘Orphan Drug Act’. This law defines the ‘orphan drug’ with regard to prevalence (frequency) of the disease for which it is indicated in the American population. In the US, the concept of ‘orphan drug’ does not simply cover pharmaceutical or biological products. It also covers medical devices and dietary or diet products. The OOPD (Office of Orphan Products Development) was created within the FDA (Food and Drug Administration). It is in charge of promoting the availability of safe and efficacious products for the treatment of rare diseases. The ‘orphan’ status allows the drug sponsor to benefit from incentives for the development of these products until the marketing approval.