2023-10-23 07:48:09
The research carried out in recent years on Amyotrophic Lateral Sclerosis (ALS) allows scientists to get closer to finding its causes, benefits the evolution of diagnostic tests and multiplies advances in treatment. Different national and international experts celebrate it at the recent VII International ALS Meeting in Spain, focused on this occasion on genetic research.
A researcher looks through the microscope. EFE/ Rafa Alcaide/Archive
Advances in research in recent years have significantly improved diagnostic tests and treatment of Amyotrophic Lateral Sclerosis (ALS). Such progress creates optimism and brings experts closer every day to the discovery of possible causes of the illness.
At the beginning of October, different national and international specialists they met at the VII International Meeting of ALS in Spain who have jointly organized the Luzon Foundation and the Ramón Areces Foundation.
Within the framework of this meeting, professionals presented the progress that is being obtained in the different large-scale projects currently underway. Furthermore, thanks also to the discovery of biomarkers, genetic and epigenetic factors, The experts concluded that research is making great progress in ALS.
The progress that has been most highlighted at the meeting occurs mainly in the diagnosis, treatment and origin of the pathology.
30 years of learning and advances on ALS
ALS is a neurodegenerative disease where motor neurons are dying, making patients have problems with basic functions such as walking, swallowing, speaking or breathing, maintaining consciousness at all times.
It is unknown what causes ALS and still No cure or palliative treatment has been found.. In Spain it is estimated that there are some 4,000 people diagnosed with ALSa figure that hardly varies.
This is the seventh edition of the meeting and was dedicated especially genetics on the occasion of 30th anniversary of the discovery of one of the genes that causes familial ALSbranch of the disease that affects several relatives of the same nucleus.
For this reason, the event that was held in the Ramón Areces Foundation led by title “30 years of learning about ALS: new scenarios and challenges”.
In addition to genetics, Other themes They were fundamental in the meeting. The specialists especially highlighted the importance of find biomarkers that allow early diagnosis y learn more about the evolution of the illness. These advances are keys to finding drugs promising in clinical trials.
From left to right: Los investigadores Axel Freischmidt (University of Ulm) and Jan Valdeink (Utrecht University), together with the Executive President of the Francisco Luzón Foundation, Maria Jose Arreguithe general director of the Ramón Areces Foundation, Raimundo Pérez-Hernández y Torraand the director of the F. Luzón Foundation, Sonia Sanchez de Bernardo. Image provided.
ALS: main lines of work in genetics
The works and research presented face challenges such as unravel the role of genetics in the causes and incidence of ALSo find biomarkers that allow early diagnosis and predict the evolution of the disease, key for clinical trials.
Within the framework of the meeting, Jan Valdeinkscientist at the University of Utrecht (Netherlands), highlighted that “Rare genetic variations play an important role in ALSboth in sporadic and familial ALS” and, for this reason, made an urgent call for “find these genetic variations through large-scale studies.”
On the other hand, Michael Benatar, from the University of Miami (USA) focused on the importance of biomarkers putting the focus on neurofilaments as it is, according to the expert, the “most promising biomarker to help the development of ALS therapy.”
Finally, Axel Freischmidt, researcher at the University of Ulm in Germanyreflected on the multiple epigenetic alterations, hereditary changes that influence genetic expression but not DNA sequences, which occur in ALS patients and the little that has been studied about them to date.
“These epigenetic alterations must be studied in detail to know why these changes occur and which ones actively contribute to the appearance and progression of ALS,” he maintains.
The challenges and future of ALS
After their interventions, the speakers joined a round table where they debated these topics and gene therapies in ALS, accompanied by researchers. Ana Cristina Calvo Royo (Zaragoza’s University), Pol Andrés Benito (Bellvitge Hospital, Barcelona) and Juan Francisco Vázquez Costa (La Fe University and Polytechnic Hospital, Valencia).
As a conclusion to this debate, the two main challenges in genetics to work on:
On the one hand, lay the foundations for treatments that people whose genes predict a propensity to suffer from ALS or families with a genetic predisposition to the disease will need. On the other hand, improve collaboration between teams studying ALS or to take advantage of already existing resources and materials.
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