Rare Disease Day | February 28
On this day Rare Disease Day, we want to tell you one chapter of the rare diseases ‘research story. BioISI scientists are the main characters, their research is the argument and the message they want to convey is that Science contributes to equitable access to diagnosis, treatment, health and social care and opportunities for people suffering from a rare disease. In this story, the characters have no voice because they are not representing themselves but acting on behalf of a greater cause: to give voice to people with a rare condition.
Below you can know our stories by watching the videos.
Multiple Acyl CoA dehydrogenase deficiency is a fatty acid and amino acid oxidation disorder. It can be manifested from a severe condition in newborn by means of metabolic acidosis, cardiomyopathy and liver disease to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.