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.
At BioISI, researchers from Protein Misfolding and Amyloids in Biomedicine and Structure-Based Molecular Modeling Lab (both at Ciências ULisboa) are working to improve the quality of life of patients with this condition.


Cystic fibrosis is a genetic pulmonary disorder characterized by salty sweat, thick mucus secretions causing multisystem disease and chronic infections of the lungs. However, scientists from the Cystic Fibrosis Research Group at BioISI – Ciências ULisboa join forces to look for increasing life quality of the patients by understanding the mechanisms of the disease.



Maturity Onset Diabetes of the Young (MODY) s caused by a mutation (or change) in a single gene. This type of diabetes typically begin before age 30, although it can occur later in life. Researchers from the Cardiovascular Research Group at Instituto Nacional de Saúde Doutor Ricardo Jorge study this condition, aiming at contribute for a life with more quality for these patients.



Leukodystrophies are a group of rare neurological diseases that affect the white matter (tissue made of insulated nerve fibers) in the brain and spinal cord. This condition usually affect infants and young children and its main consequence is a delay in the development of mental and movement abilities. Luckily, our scientists at the Protein Misfolding and Amyloids in Biomedicine LabCiências ULisboa devote their time to evaluate the effect of the mutations have on a specific protein in order to help people suffering from this condition in terms of better therapies and prognoses.



Most neurodegenerative disorders are rare and largely disregarded by the pharmaceutical industry. Huntington and Alexander diseases, ARSACS and SPAX8 are examples of such conditions. At the Cell Structure and Dynamics Lab (Ciências ULisboa), BioISI scientists are developing molecular tools and cellular models to study some of those diseases because they believe that understanding the disease mechanism is a crucial step to find its cure.


Sitosterolemia is a rare disease characterized by the accumulation of phytosterols – molecules related to cholesterol but found in plants – in the blood and tissues. Its clinical manifestations can range from cutaneous manifestations of yellowish cholesterol-rich material to premature atherosclerosis. Investigators from the Cardiovascular Research Group at Instituto Nacional de Saúde Doutor Ricardo Jorge work to develop personalized diagnoses so patients can be submitted to the most appropriate treatment.