On November 7, the IBUB/UB-CIBERER Mini Symposium on Genetic Rare Diseases was held in Barcelona.
In a face-to-face and online format, four speakers have walked the path from the patient affected by a rare disease, who is visited by clinical experts in search of a diagnosis (Merche Serrano, Hospital Sant Joan de Déu and CIBERER), to the testing of new specific drugs for rare diseases (Pascual Sanz, IBV-CSIC and CIBERER), through genetic testing based on massive sequencing, the act of genetic counseling to patients and families (Marta Codina; IR Vall d’Hebron), and basic research on the molecular pathology underlying the mutations causing these rare diseases (Isaac Canals, Lund Stem Cell Center, Sweden). Four brilliant and didactic talks that have enlightened and inspired an audience mainly represented by young researchers in training.
Some of the messages we took home included the importance of microphenotyping and the correct adaptation of protocols and scales to measure phenotypes in pediatric patients; the enormous task of exome reanalysis, given the increasing number of unresolved exomes; the difficulty of VUS (variants of uncertain significance) and unsolicited findings in informed consent and genetic counseling; the advantages of prime editing over conventional CRISPR/Cas9 editing to generate isogenic patient-control iPSCs and new findings on neural pathophysiology of Gaucher disease obtained from brain organoids; the correct definition of orphan drug, its important advantages in addressing the therapy of rare diseases and how a good knowledge of the pathophysiology of the disease allows us to select those drugs that can potentially benefit patients.
The symposium, organized by CIBERER, IBUB and IRSJD researchers Roser Corominas, Gemma Marfany, Kelly Rabionet and Susanna Balcells, was held at the Faculty of Biology of the University of Barcelona and could also be followed online. In fact, one of the four speakers gave his lecture remotely.
