Carlo Rinaldi, MD, PhD

Associate Professor
Department of Physiology, Anatomy and Genetics
Division of Medical Sciences, University of Oxford, United Kingdom
 
Dr. Rinaldi’s AANEM Foundation/MDA Co-Funded Development Grant 
  • 3-year grant totaling $123,933
  • $1,500 travel award to attend the AANEM Annual Meeting and present the research following completion of the project
  • Complimentary AANEM Annual Meeting registration in the year the research is presented
  • Complimentary AANEM membership for duration of funding period
 
Project Title
Androgen Receptor Isoforms: From SBMA Pathogenesis to Therapeutic Targets
 
Project Summary
Dr. Rinaldi is using this funding to increase understanding of the pathophysiology of spinal and bulbar muscular atrophy (SBMA), also named Kennedy’s disease, a neuromuscular disorder characterized by the degeneration of lower motor neurons and primary muscle atrophy. Dr. Rinaldi’s ultimate goal is to develop effective therapeutic treatments for this yet incurable condition.
 
Dr. Rinaldi’s research objective is to characterize the role of the androgen receptor (AR) isoform 2 on AR biology and its impact on SBMA toxicity. His central hypothesis is that AR45 is a key regulator of AR activity and represents a promising therapeutic target for SBMA.
 
“There is currently no treatment available for SBMA,” explained Dr. Rinaldi. “This research work has the potential to shed new light on the role of the AR isoforms in both health and disease, advance understanding of the mechanisms of pathogenesis in SBMA, and provide a new therapeutic target in close relationship with the disease-causing mutation.”