- Research

Scientists use an innovative approach to provide relevant insights into a rare neurologic disorder

Researchers from IGTP and BSC-CNS have discovered new genetic mechanisms related to spinocerebellar ataxia type 37. Their research, published in the journal Human Genetics, employed advanced techniques such as CRISPR/Cas9 gene editing, real-time large DNA sequencing and machine learning. The study deepens our understanding of this inherited disease, leading to more precise diagnoses and improved genetic counselling for patients.

- Innovation, Projects, Research

State funding of €1.8M to develop an advanced gene therapy for Friedreich's ataxia

The Centre for the Development of Industrial Technology (CDTI) and the Carlos III Health Institute (ISCII) will fund the project with 1.8 million euros within the R&D&I call linked to Personalised Medicine and Advanced Therapies in the framework of the Strategic Project for the Recovery and Economic Transformation for Vanguard Health (PERTE for Vanguard Health) in gene therapy for Friedreich's ataxia.

- 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.

- Innovation, Research

Biointaxis launches a 0.88M euro crowdfunding campaign to finance a curative therapy for Friedreich's Ataxia

Biointaxis is a spin-off of the IGTP led by Dr. Antoni Matilla-Dueñas. To date, the research has been financed with the support of patient associations, the founders themselves, La Caixa Foundation, the CDTI and the Ministry of Science and Innovation. The project, that received the European seal of excellence in 2020, is in the final phase of gene therapy after years of research progress and it is the only candidate with potential to cure the disease at the moment. This round aims to overcome  the critical inflexion point - the demonstration of the biodistribution and safety of the therapy in non-human primates. The value of the company will increase considerably when this data is available in less than 1 year; the financing campaign is being carried out through the equity crowdfunding platform of Capital Cell.

- Research

The Can Ruti Rare Diseases Workshop shows the strength of multidisciplinary work on the campus

This years' edition of the Workshop on Rare Diseases took place at the IGTP this Thursday with the title 'A Multidisciplinary Approach to Rare Diseases' timed for the International Day for Rare Diseases, celebrated this year on 29 February. The key to improving the management of this type of disease is dialogue between different specialty areas and a much more global approach. This must be coupled with the inclusion of research staff when deciding on the lines of research to be advanced.