Wednesday is Rare Disease Day 2018!
Many rare diseases cause chronic health problems or are even life-threatening and the impact on the quality of life of affected patients, of whom many are children, is significant. To raise awareness, every last day of February is Rare Disease Day.
In FP7 and H2020 the EU has made major investments, funding more than 160 collaborative projects related to rare diseases covering a wide range of fields of medicine such as molecular genetics, metabolic diseases, neurology, neuromuscular and musculoskeletal disorders, immunology, cancer, infectious diseases and many more. The EU funding facilitated the formation of multidisciplinary teams from universities, research organisations, SMEs, industry and patient organisations from across Europe and beyond.
To date, a limited but increasing number of so-called orphan drugs (rare diseases are also called orphan diseases) are reaching patients. However, the majority of rare diseases are still without any effective treatment. Applying for an orphan drug designation for the innovative advanced therapy medicinal product is also a key step within MYOCURE towards the ultimate goal of curing patients with myotubular myopathy (MTM) and glycogen storage disorder (GSD) type II.