Fady Guirguis
A5016363296- RNA Research and Splicing
- Muscle Physiology and Disorders
- Cell Adhesion Molecules Research
- Viral Infectious Diseases and Gene Expression in Insects
- Neurogenetic and Muscular Disorders Research
- Tissue Engineering and Regenerative Medicine
- Viral Infections and Immunology Research
- Virus-based gene therapy research
- RNA modifications and cancer
- RNA Interference and Gene Delivery
National Institute of Neurological Disorders and Stroke
2024-2025
University College London
2022-2024
National Institutes of Health
2024
Abstract Collagen VI-related dystrophies (COL6-RDs) manifest with a spectrum of clinical phenotypes, ranging from Ullrich congenital muscular dystrophy (UCMD), presenting prominent symptoms and characterised by progressive muscle weakness, joint contractures respiratory insufficiency, to Bethlem dystrophy, milder typically recognised later at times resembling limb girdle intermediate phenotypes falling between UCMD dystrophy. Despite pathology features highly suggestive COL6-RD, some...
Abstract Antisense therapeutics such as splice-modulating antisense oligonucleotides (ASOs) are promising tools to treat diseases caused by splice-altering intronic variants. However, their testing in animal models is hampered the generally poor sequence conservation of intervening sequences between human and other species. Here we aimed model mouse a recurrent, deep-intronic, splice-activating, COL6A1 variant, associated with severe form Collagen VI-related muscular dystrophies (COL6-RDs),...
Abstract Collagen VI-related dystrophies (COL6-RDs) manifest with a spectrum of clinical phenotypes, ranging from Ullrich congenital muscular dystrophy (UCMD), presenting prominent symptoms and characterised by progressive muscle weakness, joint contractures respiratory insufficiency, to Bethlem dystrophy, milder typically recognised later at times resembling limb girdle intermediate phenotypes falling between UCMD dystrophy. Despite immunohistochemical features highly suggestive COL6-RD,...
Many disorders affect multiple organs or involve different regions of the body, so it is critical to deliver therapeutics systemically target affected cells located in sites. Intravenous injection a widely used systemic delivery route preclinical studies that assess treatments intended for body-wide administration. In adult mice, involves intravenous administration therapeutic agent into mouse's lateral tail veins. When mastered, tail-vein injections are safe and fast, only require simple...