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Lysosomal Acid Lipase Deficiency (LAL-D) is an ultra-rare metabolic disease that affects 43 people in Spain and less than 10,000 people throughout Europe.
This disease is caused by a congenital error in lipid metabolism, which is characterized by the deposition of cholesterol esters and triglycerides in the body.
The LAL-D Spanish Patient Organization (AELALD) wants to facilitate early diagnosis for this disease that can be devastating during the first year of life and cause different pathologies throughout life.
For this reason, we contacted BDCare, a spin-off of the Universitat Autònoma de Barcelona (UAB) and a big data and artificial intelligence company, to develop a diagnostic, monitoring and emergency solution for hospitals, pharmaceutical companies and research centers. among other actors related to Rare Diseases.
The technological tool will collect and analyze all the analyzes of the patients that are carried out in the hospitals, learning from them and looking for variables that can facilitate the diagnosis of future patients. Subsequently, all the information for follow-up is incorporated, providing tools and services to the medical team and the patient himself, including knowledge of the emergency protocol to follow and thus, facilitating follow-up.
A data repository will be generated based on the clinical history of the patients and their blood tests on which learning methodology will be applied for known and diagnosed diseases with the help of experts and considering the clinical and family history. Through the study of variables and the search for new biomarkers, patterns will be extracted for the prediction of the disease and its evolution.
Creating this technological solution is valued at € 30,000. We need your help to be able to give a push to this project that gives hope to many families that are currently affected by the disease, because it opens a world of knowledge that helps research, but, above all, gives life expectancy to babies affected who will be born in the future and, without an immediate diagnosis, will not be able to survive.
If you want to collaborate, please click here and you will be redirected to the GoFundMe platform, with which we are raising funds for this project.
Thanks!!!
