- Research

Researchers from Germans Trias and Mateu Orfila Hospital in Menorca identify a new subtype of ataxia

The article describing the new SCA49 subtype has been published in the journal Brain Communications, and is featured as a highlight by its Editorial Board. The new ataxia subtype has been identified by studying members of one family from the island of Menorca. The finding provides a better understanding of the pathological basis of ataxia and opens the door to pre-symptomatic diagnoses and genetic counselling for people with the disorder.

- Research

New biomarkers to monitor and predict the remission phase (honeymoon) in children with type 1 diabetes

A study led by researchers from the Germans Trias i Pujol Research Institute (IGTP) and the Parc Tauli Hospital published in Frontiers in Immunology shows that a sample of peripheral blood can be used to identify levels of cells and molecules of the immune system that are specifically altered during the remission phase in paediatric type 1 diabetes (T1D). These can be used to monitor this phase and predict the progress of the disease.

- Research

The GCAT|Panel is the first complete genetic map of the Iberian population that helps identifying possible genetic causes of common diseases

The panel is the result of a collaboration between the GCAT|Genomes for Life Cohort of the IGTP and the Barcelona Supercomputing Center. Massive genome sequencing of a sample of healthy members of the population has made it possible to provide a genetic tool to study complex variants in the genome that can potentially cause common diseases. The panel will allow researchers using low-cost sequencing techniques to improve the discovery and interpretation of the genetic changes behind common diseases more easily

- Research

The generation of human neurofibromas in mice opens the door to testing new treatments

The Hereditary Cancer Group have published a study in Cell Reports in which they describe the generation of a model system based on induced pluripotent stem cells (iPSCs) that is able to generate human neurofibromas in mice. These tumours arise in people with the genetic disease Neurofibromatosis Type 1, a prevalent condition occurring in one in every 3,000 people. To date, a robust method for generating human neurofibromas in mice has been lacking, and the model developed opens up the possibility of testing new treatments for these tumours.

- Research

The RIGHT PLUS Network presents the results of the LAMIS study on sexual health in gay men and MSN in Latin America

The RIGHT PLUS Network has presented the executive summary of the Latin American MSM (men who have sex with men) Internet Survey (LAMIS-20218), in which 64,655 men who have sex with men in Latin America responded to a questionnaire on physical and mental health. The CEEISCAT (Centre for Epidemiological Studies of Sexually Transmitted Disease and AIDS in Catalonia), a research group at the IGTP is part of the international consortium Coalition Plus, which carried out LAMIS-18.