The genes behind rarities: a collective construction about the bases of rare genetic diseases

• Grant number: 24/00578-7
• Support Opportunities: Scholarships in Brazil - Scientific Journalism
• Start date: September 01, 2024
• End date: February 28, 2025
• Field of knowledge: Biological Sciences - Genetics - Molecular Genetics and Genetics of Microorganisms
• Principal Investigator: Mariana Moysés Oliveira
• Grantee: Ana Beatriz Paiva Primo
• Host Institution: Associação Fundo de Incentivo à Pesquisa (AFIP). São Paulo , SP, Brazil
• Associated research grant: 21/09089-0 - High throughput genomic edition to investigate neurodevelopmental disorders using isogenic cellular models, AP.JP

Abstract

The neurodevelopmental disorders (NDDs) are characterized by variations in the functioning of the neural system that can occur since the fetal period. It can impact the individual's intellectual, physical, and/or mental characteristics throughout their life. Rare genetic diseases are often associated with the NDDs. Rare genomic variants associated with these syndromes are commonly situated in genes that regulate neuronal communication and regulation pathways of gene expression.The progress of innovative biotechnologies over the years has allowed a wide space for gene editing methodologies, especially CRISPR-Cas9. These techniques have the potential to leverage novel studies about clinically relevant genes, which allows new research perspectives for rare genetic diseases associated with NDDs. Although the application of gene editing techniques create several possibilities linked to the development of new precision medicine strategies for these syndromes, debates on this subject are still poorly permeable in society. The goal of this journalistic research project is to disseminate for the lay public scientific information about advances in clinical prognosis and treatments already described in the literature. In addition, this initiative will embrace the perspective of groups of families who live with these syndromes, enabling a collective construction of knowledge about the needs for personalized approaches to monitor these people. This proposal will inform the population about a relevant social topic, but still not very accessible to communities outside academic and people directly affected by rare genetic syndromes. The active participation of family groups in the creation of content, under the supervision of the Principal Investigator and the coordination of the beneficiaries of this project, will ensure an empathetic and inclusive approach toward people with rare genetic syndromes. The dissemination of information will trigger the spectators' curiosity about the subject, encourage researchers to develop new studies in the area, and stimulate young people to deepen their knowledge of scientific advances.