Research on Artificial Intelligence in Rare Diseases

Sandra Brasil

Sandra Brasil, researcher from the CDG & Allies Professionals and Patient Associations International Research Network (CDG & Allies PPAIN), is leading a global research, aiming at compiling information related to the use of Artificial Intelligence (AI) tools in the field of Rare Diseases to improve disease diagnosis, patient characterization, disease classification and the search of new therapies, ultimately improving patient and family members’ lives.

“This work consists of a literature revision that gathers existing important information that was scattered along several scientific papers. With this revision we can compile all this information in a single document”, says Sandra Brasil.

This research, which is currently ongoing, is an important step for both the patient and the scientific communities. Patients can access all of this information in one document and can use it as reference among the medical community. Furthermore, researchers will have access to the different compiled AI tools which can be used to improve their research, fostering new partnerships and reducing time spent in information gathering.

According to the researcher, the paper gathering all the information about AI tools in Rare Diseases entitled: “Artificial Intelligence in Rare Diseases: is the future brighter?” was published in the scientific journal “Genes”.

Sandra Brasil has worked in several projects contributing to CDG’s future, such as the pioneer project: “CDG therapies: from bench to bedside” in which all the information available about current therapeutic strategies for CDG was collected. The resulting paper was published International Journal of Molecular Sciences journal.

The researcher has worked as a post-doc in Professor Belén Pérez’s laboratory in Madrid, were she was involved in the search and validation of pharmacological chaperones – a therapy consisting in the use of small molecules to help proteins get the final and correct shape to function properly – for two Rare Diseases, one of which was PMM2-CDG, the most common CDG type.

In 2017, she came back to Portugal and joined the Portuguese Association for Congenital Disorders of Glycosylation and Other Metabolic Rare Disorders (APCDG-DMR) as a researcher and patient advocate, giving voice to the patient community.

“At this point, my main goal is to keep pushing for research and therapy development for CDG and to contribute to educate and empower the CDG Community but also the general society about this group of disorders.

CDG are a group of 150 hereditary disoders that afect glycosylation, a process by which all human cells store long-chain sugars that are linked to proteins or lipids (fats), This is an essential process for several biological functions. These disorders are highly incapacitating, with an elevated pediatric mortality rate and with a very negative impact on patients and families’ quality of life. CDG are family of rare disorders, being PMM2-CDG the most common type, with an estimated prevalence of 1 in each 20 thousand people. For more information go to: or 

Share on: