There are more than 7000 rare diseases in the World, affecting 300 million people, 30 million in Europe, 3 million in Spain. Only 5% of these diseases has treatment, as their complexity makes difficult to find therapies. Average time from first symptons to diagnosis and possible treatment is about 4 years, and for 20% of cases is up to10 years. Most of patients are children.
Many people are working to make these times shorter. My friend Isabel López, director of Clinical Biochemistry and Genetics Center in Murcia (Spain) is working since more than 35 years ago in early detection. Two days ago, she received a prize from D’genes, one of the 411 associations of rare diseases in Spain.
Our company Kinsy is also involved in development and manufacturing of new chemical entities for pre-clinical and clinical trials, in partnership with biotech and pharmaceutical companies looking for new treatments for rare diseases. We are also producing some APIs for orphan drugs.
From early diagnosis to pharmaceutical development, combined efforts of many people and institutions are needed to give these patients the hope of a healthy life.
Dr. López, Managing Director