Rare but equal
Oeiras, 28.02.11
Today is Rare Disease Day.
Our contribution to this day is to highlight the importance of scientific research in this area. Paraphrasing the focus of Rare Diseases Day in 2011: rare diseases deserve equal attention. Also in terms of research.
Rare Disease Day is an annual, awareness-raising event, involving hundreds of patient organisations from more than 40 countries worldwide, to put rare diseases high on the public health agenda of each country. A disease or disorder is defined as rare in Europe when it affects less than 1 in 2000. One rare disease may affect only a handful of patients, and another touch as many as 245,000. In the European Union, as many as 30 million people alone may be affected by one of the 6000 to 8000 rare diseases existing.
But it is precisely because the diseases are rare that dealing with them becomes a challenge. For one thing, due to the broad diversity of disorders, the scientific knowledge for each disease is scarce, which results in common initial misdiagnosis and, many times, in no available treatments. To quote the EURORDIS’ CEO, Yann Le Cam, “The rarity of patients, medical experts, knowledge and resources are aggravating the vulnerability of rare disease patients who are suffering from life threatening, debilitating, and chronic diseases”.
This is why one of the missions of patients associations is Promoting scientific and clinical rare disease research. While research at ITQB is not clinically oriented several groups at ITQB contribute with their work for a better undestanding, diagnosis and treatment of rare diseases.
Researchers at the Glycobiology Lab analyse glycoproteins from the plasma and cerebrospinal fluid of patients with the neurodegenerative disease Amyotrophic Lateral Sclerosis (ALS), to identify potential biomarkers.
At the Cell Signaling in Drosophilla Lab, researchers use fruit flies as a model for studying eye photoreceptor cells that progressively degenerate over time in a disease called Retinitis pigmentosa.
Using a different angle, the Lab of Protein Biochemistry, Folding and Stability looks at changes in protein conformation in neurodegenerative diseases such as Freidriech ataxia and ALS and metabolic diseases such as multiple acyl‐CoA dehydrogenase deficiency (MADD).
The Molecular Simulation Lab uses computer simulations to understand the misfolding of prion proteins linked to Creutzfeldt-Jakob disease, Gerstmann–Sträussler–Scheinker syndrome, and Fatal familial insomnia. Similarly, researchers look into the misfolding of the surfactant protein C (SP-C) associated to Pulmonary alveolar proteinosis.
Researchers in the Molecular Interactions and NMR Lab are using spectroscopic methods to identify plants that neutralize cholera toxin.
Many rare diseases are associated with malformations of the respiratory complex I; this first enzyme of the respiratory chain is currently under study in the Biological Energy Transduction Lab.
With small contributions like these, knowledge on rare diseases increases. And with more knowledge come more opportunities for helping rare disease patients. But shedding light on the diseases is just one step. And many more are needed. We can all get involved and draw attention to rare diseases and the millions of people who are affected by them. You can find more on rare disease day and how to get involved here.
