Our lab uses the mouse to model immune, bone and neuromuscular disorders using both forward and reverse genetics approaches. Our current research focuses on the pathogenic mechanisms underlying in RANKL-mediated pathologies such as osteoporosis or osteopetrosis by studying either transgenic mice overexpressing human RANKL or mutant mice carrying a loss-of-function mutation in RANKL gene, respectively. Moreover, using a forward genetics approach we have identified two novel disease targets, SLC25A46 and DnaJC11, localized in the mitochondria that cause immune impairments and neurological phenotypes in unique mouse models of ataxia and neuromuscular diseases.
Ongoing Projects:
• Studying RANKL-mediated pathogenic mechanisms
---> RANKL-mediated osteopetrosis & osteoporosis
• DnaJC11, a novel genetic cause in neuromuscular diseases
• Studying SLC25A46-mediated pathologies in a mouse genetic model
Top