[Seminar] From rare disease families and professional challenges, to data science, AI and data integration: 7 secrets for life changing solutions

  • Research
  • Training
Published on February 10, 2021 Updated on February 10, 2021

on the March 11, 2021

March 11, 2021 from 2:00 p.m. until 3:00 p.m.  (30 minute talk followed by a 30 minute open discussion)

100% online

Seminar held online via Zoom


  • Vanessa dos Reis Ferreira, PhD MBA (Co-founder CDG & Allies PPAIN, founder APCDG and World CDG Organization, Portugal)
  • Sandra Brasil, PhD (Post-doctoral researcher at CDG & Allies PPAIN, Portugal)
  • Tatiana Rijoff (Bioinformatician at CDG & Allies PPAIN)
  • Gonçalo Valadão, PhD (AI Professor at Techlab–Universidade Autónoma de Lisboa, Portugal)


The amount of data collected and managed in (bio)medicine is ever-increasing. Thus, there is a need to rapidly and efficiently collect, analyze, and characterize all this information. Artificial intelligence (AI), with an emphasis on deep learning, holds great promise in this area and is already being successfully applied to basic research, diagnosis, drug discovery, and clinical trials. Rare Diseases (RDs), which are severely underrepresented in basic and clinical research, can particularly benefit from AI technologies.

Of the more than 7000 RDs described worldwide, only 5% have a treatment. The ability of AI technologies to integrate and analyze data from different sources (e.g., multi-omics, patient registries, and so on) can be used to overcome RDs’ challenges (e.g., low diagnostic rates, reduced number of patients, geographical dispersion, and so on). Ultimately, RDs’ AI-mediated knowledge could significantly boost therapy development. Presently, there are AI approaches being used in RDs and this talk aims to share a sum up of these advances. Special focus on congenital disorders of glycosylation (CDG), a particular group of orphan RDs that can serve as a potential study model for other common diseases and RDs, will be included.

Format and Registration:

This seminar will be held online, via Zoom, on March 11, 2021 from 2:00 p.m. until 3:00 p.m.  (30 minute talk followed by a 30 minute open discussion).

To register, please send an email to: