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20 June, 2022The Lagenbio Group is specialized in investigating a disease whose origin is unknown in 90% of cases.
Tomorrow marks World Amyotrophic Lateral Sclerosis Day.
Generate a panel of biomarkers that makes it possible to advance the diagnosis, specify the prognosis and explain the enormous variability that patients with amyotrophic lateral sclerosis (ALS) present. This is the objective of the projects in which the Lagenbio Group works: Teragen and Regeneragen of the Aragón Health Research Institute (IIS Aragón).
Led by Charo Osta, dedicated to the study of this pathology since 2000, this multidisciplinary team made up of 15 scientists is a pioneer at European level in promoting research and experimental therapies for this disease, from which around 4.000 people suffer in Spain and whose origin It is only genetic in 10% of cases.
ALS, whose World Day is celebrated tomorrow, is a disease of the motor neurons that leads to progressive paralysis and causes death within three to five years from the onset of symptoms. “The great clinical variability that patients present causes the diagnostic process to be considerably delayed, causing them to be in a situation of terrible vulnerability when they notice the progression of symptoms and find neither a name for their disease nor a possible treatment,” explains Osta.
14 months for a diagnosis
The creation of this panel of biomarkers would reduce the time until diagnosis, which is currently 14 months on average, which would mean not having to visit several specialists performing unnecessary tests and even misleading operations. This would also avoid a high financial expense, since the impact of this disease per patient and family is about 30.000 euros per year, of which a third is supported by the National Health System.
“By anticipating treatment, symptoms are improved and their progression is slowed. On a personal level, prior knowledge of the diagnosis and prognosis of the disease reduces the uncertainty and anguish caused by the lack of knowledge of the sick, their families and caregivers,” argues Osta.
In the projects of this IIS Aragón group, biomarkers related to RNA metabolism are studied: microRNAs, circular RNAs and long non-coding RNAs. "RNA processing is affecting ALS and several mutations are known in the genes involved in this process, so we hope that the alterations that we can observe in these molecules will give us an idea for the prognosis and diagnosis," highlights the main researcher. To do this, they use a genetically modified animal model that mimics the human disease.
“We analyze how these RNA molecules are altered in healthy animals compared to those with the disease. Once located, we study them in the patient's blood to see if it helps us diagnose,” he adds.
The research group
The Lagenbio Group of IIS Aragón is made up of veterinarians, chemists, biotechnologists, biologists, doctors and engineers who regularly participate in international conferences, scientific meetings and meetings with patients to communicate results. At the beginning of this month of June, Ana Cristina Calvo, a member of the team, coordinated and moderated an international meeting on this type of RNA-based biomarkers during the ENCALS International Symposium held in Edinburgh.
At an international level, doctoral student Leticia Moreno has been selected to present an oral communication about part of the work she is doing in her Doctoral Thesis, based on circular RNAs, at the Global Summit on Neurodegenerative Diseases NEURO that will be held soon in Salamanca. In addition, the group's collaborations with the team of Dr. García Redondo, from the 12 de Octubre University Hospital in Madrid, were the nucleus of a national research network in ALS.