Portuguese leads research on Artificial Intelligence in Rare Diseases

Portuguese leads research on Artificial Intelligence in Rare Diseases

Article was published in the scientific journal “International Journal of Molecular Sciences”

Sandra Brasil, a researcher at CDG & Allies Professionals and Patient Associations International Research Network (CDG & Allies PPAIN), leads a worldwide investigation, whose aim is to conduct a literature review in order to compile information related to the use of Artificial Intelligence tools in the diagnosis, characterization of patients, classification of diseases and the search for new therapies in rare diseases.

“This work gathered information that already existed in the literature, but that was dispersed among several articles. Thus, we are able to have access in a single document to all information related to existing or under development therapies for CDG ”, says Sandra Brasil.

The research that is currently taking place is a very important step for the entire scientific community, for several reasons: it will allow patients to have access to all information in a single document that they can use as a reference, with the medical community.

Researchers in the area of ​​CDG will have access to all the different models of the disease and the research that is being carried out in the area of ​​therapies, thus allowing the development of new partnerships and reducing the time to search for information.

The researcher also mentions that an article was published in the scientific journal “Genes”, with all the information gathered, so far, about the study she is leading: “Artificial intelligence in rare diseases: will the future be brighter?”.

Sandra Brasil, has been carrying out several investigations that contribute to the future of CDG, such as the pioneering project “Therapies in CDG: from the bench to the patient” (CDG therapies: from bench to beadside), in which the objective went through gathering information on all existing therapies.

The same article was published in the scientific journal “International Journal of Molecular Sciences”.

The researcher concluded her Post-Doctorate, at Professor Belén Pérez's Laboratory, in Madrid, where she participated in the search and validation of pharmacological chaperones – therapy that consists of the use of small molecules that help the mutant proteins to adopt the appropriate form to perform the its function – for two rare diseases, one of which is PMM2-CDG, which corresponds to the most common form of CDG.

In 2017, the researcher returned to Portugal, having the opportunity to continue working with the Portuguese Association CDG and Other Rare Metabolic Diseases, not only as a researcher, but also as a patient advocate, listening and giving voice to patients.

"At this moment, my goal is to continue working towards the development of research and therapies for the CDG, as well as contributing to the education and empowerment of the CDG community and the awareness of society in general in relation to these diseases", concludes.

CDGs are a group of 150 hereditary diseases that affect glycosylation, a process by which all human cells accumulate long-chain sugars that are linked to proteins or lipids (fats), essential for many biological functions. These diseases are highly disabling, with a high pediatric mortality rate and with a significant negative impact on the quality of life of patients and families. CDG are a family of very rare diseases, estimated that the most common form (PMM2-CDG) has an incidence of 1 in every 20 thousand people.


The Portuguese Association for Congenital Glycosylation Diseases and other Rare Metabolic Diseases (APCDG) is a non-profit organization aimed at promoting innovative research that makes a difference in the lives of patients and their families. The actions of this association are carried out at national and international level. For more information, see: http://www.apcdg.com/


The World Organization for Congenital Glycosylation Diseases is the unified voice of people living with CDG. The aim is to transform the global understanding of the CDG and defend those living with the CDG. OMCDG has a strong voice, common with governments, researchers, clinicians and industry to promote research, diagnosis, treatment and services for CDG. OMCDG is led and operated by CDG & Allies Professionals and Patient Associations International Research Network (CDG & Allies PPAIN). For more information, see: https://worldcdg.org/

About CDG & Allies PPAIN

CDG & Allies PPAIN is an international research network dedicated to the group of CDG and related diseases, based at NOVA School of Science and Technology. For more information, see: https://www.researchcdg.com/.


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