AISLA - National ALS Biobank
The important project saw its realization on June 20, 2019: in the presence of Prime Minister Giuseppe Conte, AISLA, Fondazione Policlinico Universitario Agostino Gemelli IRCCS and XBIOGem inaugurated the first National Biobank dedicated to ALS.
The scarcity of clinical and biological data, due to the rarity of amyotrophic lateral sclerosis, has significantly slowed down the search. Although there has been great progress in genetic discoveries in the past 20 years, ALS remains a dark disease. For this reason, biobanks are an indispensable source of biological materials, precious encyclopedias of genetic heritage, rich in knowledge to define prevention and diagnosis tools.
The project of a National Biobank was born from an initiative of AISLA, which has started to raise funds for this important scientific resource since 2015. AISLA has committed itself to the creation of a Biobank that could store a huge number of biological samples from Amyotrophic Lateral Sclerosis patients. The purpose of this single point of articulation for clinical, epidemiological and genetic data is to speed up research activities on Amyotrophic Lateral Sclerosis, a degenerative disease for which there is currently no cure.
This precious Biobank can contain up to 380,000 biological samples, which will be put completely at the service of research. As stated by Giovanni Raimondi, president of the Fondazione Policlinico Universitario Agostino Gemelli IRCCS, the creation of this Biobank is an example of synergy between industry, hospitals and associations, all aimed at achieving results in the search for treatments against ALS.
The catalog of stored samples can be consulted by Italian and foreign scientists, who will be able to work on the data present in the Biobank, created among other things also thanks to the generosity of the Selex Commercial Group, which has created a donation campaign that could encourage scientific research. The great complexity of ALS sees active research in different areas, in order to identify therapeutic strategies and markers to identify diagnosis and disease progression.
- Genetics - discovery of new causative mutations of the pathology for the identification of new targets for gene therapy, with drugs that modulate the expression of altered genes. In light of the results in other neuromuscular diseases (SMA and Amyloid Polyneuropathy) this approach represents one of the most promising strategies.
- Diagnosis and prognosis – identification of possible diagnostic markers both biological (e.g. analysis of neurofilaments in the CSF and blood) and instrumental (e.g. NMR).
- Pathophysiological mechanisms – for the identification of new therapeutic targets for biochemical therapy, with drugs that interfere with cellular functions that are supposed to play a role in the degeneration of motor neurons, such as:
- Excitotoxicity and oxidative stress
- RNA metabolism
- Quality control and protein aggregation
- Specific protein functionality and axonal transport
- Inflammation and immunity in the nervous system
In Italy there are about 6,000 people with ALS (1 / 10,000), evenly distributed throughout the national territory. In the catchment area of a zonal hospital there are about 20-25 residents affected by the disease. The presence of an ALS National Biobank offers support also more peripheral and less organized clinical centers.
To receive more information on the National Biobank or about one of our prevention products, do not hesitate to contact us.