Conferences & Meetings

2019 Brokerslink Conference
October 17-18, 2019

“The longivity challenge and its impact in health insurance” – this theme was aboded by Maria-Carmo Fonseca, RiboMed coordinator, and iMM principal researcher, at 2019 Brokerslink Conference.
The Brokerslink conference, held this year at Bordeaux, France, is an opportunity for our partners and affiliates to meet insurance and risk management experts from across the world.

Credits: Brokenslink Conference

SPAOM 2019
November 6-8, 2019

On 6thNovember 2019, Maria-Carmo Fonseca, RiboMed coordinator, and iMM principal researcher, talk about live-cell analysis for pre-mRNA processing at the Spanish & Portuguese Advanced Optical Microscopy (SPAOM) conference in Coimbra, Portugal.
The SPAOM is a joint effort from a Red Española de Microscopía Óptica Avanzada and Portuguese Platform of Biomedical Imaging. The main purpose of SPAOM is to organize an annual congress covering new applications to optical microscopy and image analysis.

Credits: Nuno Moreno

5e Journée du Réseau d’Imagerie Cellulaire Paris-Saclay
November 14, 2019

Imaging and Signalling was the theme of the 5eJournée du Réseau d’Imagerie Cellulaire Paris-Saclay held on 14thNovember 2019 with the participation of Maria-Carmo Fonseca, RiboMed coordinator, and iMM principal researcher.

Targeting RNA
November 26-27, 2019

On 27thNovember 2019 Maria-Carmo Fonseca, RiboMed coordinator, and iMM principal researcher, discussed the mRNA biomarkers in response to cancer therapy at the Targeting RNA congress in Frankfurt.
The Targeting RNA congress aimed to bring together leaders in academics and pharma industry to discuss the latest advancements in modulation of RNA.

New Frontiers in Cardiomyopathies. Cardiomyopathies in clinical practice. International Post-Graduate Learning Course.
November 28-29, 2019

The “New Frontiers in Cardiomyopathies – Cardiomyopathies in clinical practice” was a live educational event directed by Dulce Brito, MD, Ph.D and Fausto J. Pinto, MD, Ph.D in Lisbon School of Medicine, Universidade de Lisboa, Portugal. This course aimed to provide up-to-date knowledge of cardiomyopathies regarding the mechanisms involved in their development and progression, how to diagnose and manage, how to choose the best candidates for new or specific therapies.
In this course, Maria-Carmo Fonseca, RiboMed coordinator, and iMM principal researcher, discussed development of gene therapy approaches and presented results from the research group on cardiomyopathies in the seminar “Sarcomeric cardiomyopathies: pathways from bench to bedside”.

Publications

RNA Splicing Defects in Hypertrophic Cardiomyopathy: Implications for Diagnosis and Therapy
International Journal of Molecular Sciences 2019, 20

ABSTRACT: Hypertrophic cardiomyopathy (HCM), the most common inherited heart disease, is predominantly caused by mutations in genes that encode sarcomere-associated proteins. Effective gene-based diagnosis is critical for the accurate clinical management of patients and their family members. However, the introduction of high-throughput DNA sequencing approaches for clinical diagnostics has vastly expanded the number of variants of uncertain significance, leading to many inconclusive results that limit the clinical utility of genetic testing. More recently, developments in RNA analysis have been improving diagnostic outcomes by identifying new variants that interfere with splicing. This review summarizes recent discoveries of RNA mis-splicing in HCM and provides an overview of research that aims to apply the concept of RNA therapeutics to HCM.