On this day Rare Disease Day, we want to tell you one chapter of the rare diseases ‘research story. BioISI scientists are the main characters, their research is the argument and the message they want to convey is that Science contributes to equitable access to diagnosis, treatment, health and social care and opportunities for people suffering from a rare disease.

A new paper, first-authored by Lúcia Santos and coordinated by Carlos M. Farinha, analyzes five different mutations in Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene and the associated mechanisms that causes disease. Know more in this BioISI Digest.

In a recent publication first-authored by Mariana Lopes, a PhD student supervised by Raquel Chaves, Margarida Gama-Carvalho , and Sandra Louzada, human satellite 1A transcription was studied for the first time. These structures are highly repeated sequences and can be transcribed into non-coding RNAs with relevant functions in the genomes. Discover more here.

Ganna Rozhnova studied the perceived influence of HIV on the quality of life of people with HIV and people vulnerable to HIV. If you want to know more on the reported positive aspects in living with HIV, read the BioISI Digest below.