Exon Skipping for Huntington’s disease: can we make it more specific through DREADD approach?
João Casaca Carreira
From 4 – 24 October 2015, I spent time in the lab from Prof. Trevor Sharp, Department of Pharmacology, University of Oxford. During these 3 weeks, I could meet and learn from 3 researchers working on different projects using DREADD: Expression of DREAD …
MicroRNAs as potential serum biomarkers for neuromuscular disorders
Jovan Pešović
From the 17th of October to the 20th of November I spent time in the Laboratory of RNA biology and Biotechnology, at the Centre for Integrative Biology, University of Trento, Italy using funding from the STSM program from COST BM1207. I was hosted by P …
In vivo delivery of antisense oligonucleotides for an exon-skipping approach for Fronto-Temporal dementia
Giuseppina Covello
Over the past years, I have worked, in the Laboratory of RNA Biology and Biotechnology at Centre for Integrative Biology (CIBIO, University of Trento, Trento, Italy) on the development of an antisense RNA-based gene therapy approach for the correction …
Sensitive dystrophin protein quantification in porcine animal model of Duchenne muscular dystrophy after exon skipping
Maria Schmuck
Preclinical studies are essential to establish and verify novel causative treatment approaches for Duchenne muscular dystrophy (DMD). To facilitate preclinical testing of promising compounds, we established a novel animal pig model of DMD carrying an e …
Quantification of exon skipping and functional testing in mdx mice
Camilla Brolin Hjortkjær
From April 11th to 15th I visited Professor Matthew Woods’ lab in Oxford on a STSM. I am currently working on a project combining PNA targeting exon 23 with a novel controlled drug release formulation in mdx mice, the animal model of DMD. The main aim …
Cannula placement in a Huntington’s disease mouse model
Maurice Overzier
From June 20th to June 24th I have visited the team of Biothérapies des Maladies Neuromusculaires at the Université de Versailles Saint Quentin en Yvelines (UVSQ), where I was hosted by Dr. Aurélie Goyenvalle to work with Marine Imbert. For their curre …
Application of flow cytometry to quantitate collagen VI defects and development of cellular models of congenital muscular dystrophy
Sergi Garcia
Collagen VI related myopathies are a common group of Congenital Muscular Dystrophies, which are caused by mutations in the genes encoding for collagen VI chains (COL6A1, COL6A2, COL6A3). Some of these mutations could be corrected in the future by using …
Use of antisense oligonucleotides to modulate splicing of pro-apoptotic proteins and prevent beta cell death in diabetes
Maria Ines Alvelos
My PhD project focus on understanding the role of alternative splicing (AS) in pancreatic β-cell dysfunction and death in type 1 diabetes, and also on identifying key splicing factors and harmful mRNA splice variants that can be modulated using antisen …
