June 21 marks World ALS Awareness Day, a time to raise global awareness of Amyotrophic Lateral Sclerosis (ALS), a neurodegenerative disease that continues to impact thousands of individuals and families worldwide. The date symbolizes the solstice, a turning point in the year, to remind the urgent need for breakthroughs in research and support systems for patients and caregivers.
ALS is a progressive neuromuscular condition that affects nerve cells in the brain and spinal cord. As motor neurons deteriorate, patients begin to lose motor autonomy, oral communication, swallowing or breathing, leading to multilevel paralysis and death, often within 2 to 5 years of diagnosis, although there is still a big variation when it comes to the life expectancy.
Globally, it is estimated that over 450.000 people are living with ALS, about 6 per 100.000, and approximately 120,000 new cases are diagnosed every year. This means that every day there are 328 new cases known. Though the disease can affect anyone, it most commonly appears between the ages of 40 and 70. In Europe alone, ALS affects roughly 50.000 individuals of middle age and kills about 10.000 people. Worldwide, 120.000 patients die from ALS every year.
The causes are yet unknown, due to the multimodal nature of factors involved (genetic, environmental and biological factors are believed to interact in complex ways), as well as an effective treatment or prevention method.
HEREDITARY’s contribution to ALS research
HEREDITARY contributes to the broader effort of understanding and treating diseases like ALS by developing a federated platform that facilitates secure, ethical and interoperable analysis of sensitive health data across multiple clinical and research centers.
Use case 1 specifically focuses on ALS, with the aim of enabling researchers to analyse data patterns more effectively and develop insights into disease progression, variability, and potential biomarkers. Use case 2 also applies to ALS, focusing on improving diagnosis and treatment response by developing advanced ontologies that connect genetic variant functions with clinical phenotypes to identify patient subgroups and uncover patterns. The goal is to support better disease management and improved quality of life for people living with ALS.
By integrating and harmonising data from different institutions, without moving it or compromising privacy, HEREDITARY’s infrastructure is designed to support studies in ALS and other neurological diseases, opening the door to new discoveries and future interventions.
EUpALS: the voice of ALS patient organisations in Europe is one of the HEREDITARY partners
On Monday, June 16, EUpALS, HEREDITARY’s most active and experienced partners in the ALS field, organized its Annual General Meeting, satellite to ENCALS 2025 in Turin, bringing together a strong network of Profesionals and People with ALS from across Europe.
During the meeting, EUpALS shared updates on its ongoing activities and governance, as well as its active involvement in EU Horizon projects, including, not only HEREDITARY, but also REAL4REG Project. The presentations, attended by 30 ALS associations from 22 European countries and 17 industry partners, highlighted the relevance of making progress in ALS research, where HEREDITARY stands out with the advancements in Use Case 1 for neurodegenerative diseases, phenotyping and prognosis evaluation.
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