Science with purpose: CIÊNCIAS researchers on Rare Disease Day

The initiative was created in 2008 by the European Organisation for Rare Diseases, who symbolically chose February 29th — the rarest date on the calendar — to raise awareness of diseases that are often little known or underrepresented on public health agendas. Since 2009, the movement has gained international momentum with the involvement of the US National Organization for Rare Disorders (NORD) and hundreds of patient associations in various countries.

The Faculty of Sciences of the University of Lisbon (Ciências ULisboa) joins in commemorating this event, highlighting the work carried out in its research centres, namely the Centre for Ecology, Evolution and Environmental Changes (CE3C) and the Institute of Biosystems and Integrative Sciences (BioISI), where several teams are dedicated to the study of rare diseases, seeking to deepen scientific knowledge and contribute to better diagnoses and therapies.

At CE3C, the Extracellular Matrix in Development and Disease (EMDD) group, led by Sólveig Thorsteinsdóttir, researches the role of the extracellular matrix in embryonic development processes, tissue regeneration, and diseases, contributing to the understanding of rare pathologies that affect muscle development, such as Congenital Muscular Dystrophy Type 1A (MDC1A).

The Molecular Mechanisms of Disease (MMD) group, coordinated by Rita Carlos, researches the molecular mechanisms that link the genotype—genetic information—to the phenotype—the characteristics of the organism—dedicating itself to optimizing gene therapy strategies and understanding the cellular and molecular processes associated with diseases that affect muscle fibers and progenitor cells.

Also at CE3C, the Cilia in Development and Disease (CDD) group, led by Susana Lopes, who is also a collaborator at the Cystic Fibrosis Research Lab (BioISI), conducts research and diagnostic activities in the area of ​​ciliopathies — diseases that affect cilia, microscopic, very thin structures similar to small "hairs," that exist on the surface of many of our cells. The team focuses particularly on Primary Ciliary Dyskinesia (PCD), a rare disease that affects about 1 in 7,500 people and impairs the functioning of motile cilia, affecting all organs that depend on their activity, which can cause difficulties, infertility, alterations in the laterality of organs (such as the inversion of the position of internal organs) and, in some cases, hydrocephalus.

At BioISI, several laboratories are dedicated to research into rare diseases. The Cystic Fibrosis Research Lab, co-led by Margarida Amaral and Carlos Farinha, studies the molecular mechanisms of cystic fibrosis, a rare genetic disease that primarily affects the respiratory and digestive systems.

The Cell Structure and Dynamics laboratory, led by Federico Herrera, focuses on research into rare neurodegenerative diseases such as Huntington's disease, Alexander´s disease, Charlevoix-Saguenay autosomal recessive spastic ataxia, and spastic ataxia 8. The team specializes in developing cellular models and molecular tools to study these still poorly explored diseases of the central nervous system.

Also at BioISI, the Protein Misfolding and Amyloids in Biomedicine Lab, led by Cláudio M. Gomes, is dedicated to a line of research, conducted by Bárbara Henriques, that studies rare metabolic diseases and mitochondrial disorders, with emphasis on Multiple Acyl-CoA Dehydrogenase Deficiency (MADD). In the laboratory, the team seeks to understand how genetic alterations affect the structure and function of proteins, connecting clinical observations to what happens at the molecular level, also exploring approaches such as supplementation with riboflavin (vitamin B2), which could benefit some patients by improving protein function.

In turn, the Molecular Aggregation in Disease Lab, led by Nuno Galamba, studies molecular aggregation phenomena, especially the aggregation of proteins that may be at the origin of various pathologies. These include several amyloid diseases, such as Alzheimer's disease and Parkinson's disease, as well as sickle cell anemia, a rare blood disease with a higher prevalence in Africa.

In a context where many of these pathologies remain understudied and underfunded, the work carried out at the research centres of Ciências ULisboa seeks to transform scientific knowledge into concrete solutions, contributing to increasingly earlier diagnoses, more accurate prognoses, and more effective treatments, reinforcing the idea that, in science, no one should be left behind.