Latest News
BioISI Digest | Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction
A new paper, first-authored by Sónia Zacarias, coordinated by Carlos M. Farinha, with the collaboration of Bruno L. Victor, reveals the mode of action of different drugs on the deffective protein that causes Cystic Fibrosis, giving valuable insights to develop new therapies for individuals bearing rare variants . Know more on this BioISI Digest.
Bio[r]SciDE – Science Days and Ephemeris | Rare Disease Day
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.
BioISI Digest | Mutation-class dependent signatures outweigh disease-associated processes in cystic fibrosis cells
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.

Latest Research
Bio[r]SciDE – Science Days and Ephemeris | Rare Disease Day
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.
BioISI Digest | Mutation-class dependent signatures outweigh disease-associated processes in cystic fibrosis cells
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.
BioISI Digest | Human Satellite 1A analysis provides evidence of pericentromeric transcription
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.
BioISI Digest | The experienced positive and negative influence of HIV on quality of life of people with HIV and vulnerable to HIV in the Netherlands
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.
Bio[r]SciDE – Science Days and Ephemeris | Rare Disease Day
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.
BioISI Digest | Mutation-class dependent signatures outweigh disease-associated processes in cystic fibrosis cells
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.
BioISI Digest | Human Satellite 1A analysis provides evidence of pericentromeric transcription
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.
BioISI Digest | The experienced positive and negative influence of HIV on quality of life of people with HIV and vulnerable to HIV in the Netherlands
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.