John Mackrill and Ken O'Halloran are thrilled to collaborate with Giving Strength Inc. and Penny's Promise
The combined expertise in SELENON-RM, selenoproteins and respiratory dysfunction in neuromuscular disease will uncover new insights into the mechanisms underlying respiratory impairment in SELENON-RM patients and will yield a critical new model for preclinical testing of therapeutic candidates.
SELENON-RM (formerly SEPN1-related myopathies) are rare genetic congenital muscle disorders characterized by weakness of the diaphragm. Diaphragmatic dysfunction can result in reduced oxygen levels (hypoxia), leading to cellular stress and tissue damage.
In this project funded by Penny's Promise, SELENON knockout mice will be exposed to intermittent hypoxia to assess effects on the diaphragm and other respiratory muscles and respiratory system performance. Once characterized, this model will be employed to evaluate the efficacy of potential drug candidates for treating SELENON-RM.
Physiology Department
Fiseolaíocht
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