Carlo Rinaldi, MD, PhD, has been selected as the recipient of a development grant co-funded by the ANF and the Muscular Dystrophy Association (MDA). Dr. Rinaldi, who works as an Associate Professor in the Department of Physiology, Anatomy and Genetics in the Division of Medical Sciences at the University of Oxford in the United Kingdom, will be using this funding to increase understanding of the pathophysiology of spinal and bulbar muscular atrophy (SBMA). SBMA is 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.”  

“Dr. Rinaldi has the strong support of the Neuroscience community in Oxford to pursue his research into the mechanisms of motor neuron degeneration in SBMA,” noted Kevin Talbot, MB, PhD, FRCP, Head of the Division of Clinical Neurology and Professor of Motor Neuron Biology and Consultant Neurologist at John Radcliffe Hospital in Oxford. “This is a neglected area and he is in an excellent position to be a leader in this field, both within Europe and worldwide.”

“This grant represents an incredible opportunity for me to build up an academic career as an independent investigator and develop my research program to its full potential,” Dr. Rinaldi said. “It also allows me the freedom to focus on the urgent mission of accelerating the discovery and development of treatments for SBMA.”

Dr. Rinaldi’s research efforts as part of this grant began on August 1, 2018, and will continue through July 31, 2021. Dr. Rinaldi will present the findings of this research at the AANEM Annual Meeting in Aurora, Colorado in October 2021.  

About the ANF and MDA Partnership
A unique partnership between the American Neuromuscular Foundation (ANF) and the Muscular Dystrophy Association (MDA) offers expanded funding opportunities for neuromuscular research. Neuromuscular research projects submitted to MDA that fit within the ANF’s mission may be considered by the foundation for co-funding. 

For More Information
Further information about ANF research grants is available on the foundation website. To help fund future development grants and clinical research fellowships, please consider making a donation to the ANF.