EURORDIS News- Rare Diseases Europe has been formed in order to help people living with a rare disease and concentrates on the social challenges faced by rare patients like : The gaps in coordination between medical-social and support services .
As the first personalized cell and gene therapies are approved from small clinical trials, researchers propose the creation of publicly accessible databases to pull together real-world results. www.the-scientist.com
Due to advances in rare-disease research and individualized cell and gene therapies, there has been a recent crop of treatments approved by regulatory agencies not based on the “gold standard” randomized, controlled, Phase 3 clinical trial. Rather, drug companies are getting products on the market from small, Phase 2 trials with a single arm—those that treat all patients with the experimental therapy rather than having some on a placebo or standard-of-care treatment.
The Stanford University human geneticist identified the genes and genomic abnormalities underlying numerous rare diseases, including Rett syndrome, and advanced the field of molecular diagnostics.
By Anna Azvolinsky | May 1, 2018
Before moving her lab from the University of California, San Diego (UCSD), to Yale University in 1978, Uta Francke learned how to fly. “I thought, where could you go from New Haven if you are very busy and don’t have much time? It’s hard to do with a car and even the train, so I got a license to fly a small plane and joined a flying club in New Haven,” says the professor emerita of genetics and pediatrics at Stanford University School of Medicine.
The president of Iranian Neuroscience Association pointed out, vitamin D deficiency, changes in the climate and genetics are effective in the development of MS, he also said:” 80 thousand people in Iran are suffering from this disease.”
The EURODIS high-ranking delegation met with families of rare disease patients on July 22nd2016 thanks to the arrangements by the Rare Diseases Foundation of Iran.