Cure SMA, an organization dedicated to the treatment and cure of Spinal Muscular Atrophy (SMA) — a severe and devastating neuromuscular disease that is one of the most common fatal genetic disorders, occurring in 1 in every 6,000 to 10,000 live births and the number-one genetic cause of infant death — has announced $270,000 in new research grant funding for scientists working on SMA studies.
SMA presents with variable degrees of severity as progressive muscle weakness that results in respiratory and mobility impairment. The four SMA categories are named for the age of the victim at initial onset of muscle weakness and related symptoms: Type I (Infantile), Type II (Intermediate), Type III (Juvenile) and Type IV (Adult onset).
Life expectancy and severity vary by SMA type. Type I has the grimmest prognosis with a life expectancy raging no greater than 2 years from birth, while Type IV sufferers can have up to normal lifespans but with increasing weakness of proximal muscles of the extremities that will eventually result in mobility inhibitions. Currently, treatment options for SMA patients are limited, and there is a high unmet need for new therapeutic options, both to address symptoms directly and to slow disease progression.
Cure SMA funds and directs comprehensive SMA clinical care research toward breakthroughs in treatment and care, and provides SMA-affected families support they need in dealing with this disease, from breathing to nutrition to improving their quality of life. Cure SMA’s clinical care program is focused on clinical, psychological, or social management of SMA, with its objective being to fund evidence-based projects that will improve patient care or the quality of life for those with SMA.
Since 1984, Cure SAMA has invested $57 million in the research attacking SMA from all sides. Each year, Cure SMA’s Medical Advisory Council identifies funding priorities and issues a request for proposals. Once submitted, all proposals are reviewed by the council and evaluated based on a number of criteria.
Clinical care research is a key element of Cure SMA’s research strategy to fund and support evidence-based clinical care projects toward improving the standard of care for those with SMA, to educate medical professionals, and to point the way toward new innovations.
This year’s Cure SMA grant recipients are……
A $140,000 Grant to Sara Custer, PhD, of Indiana University
The recipient of the 2015 Cure SMA Audrey Lewis Young Investigator Award is Sara Custer, PhD, a postdoctoral fellow in Dermatology, at Indiana University’s School of Medicine. Dr. Custer is a senior post-doctoral researcher, working towards leading her own SMA research lab in the future, and will receive $140,000 for her project, entitled “Gene changes in a NSC-34 model of SMA.”
Because persons with SMA don’t correctly produce survival motor neuron protein (SMN protein) at high enough levels. Dr. Custer’s project will examine how these low SMN levels affect the genes in motor neurons.
Dr. Custer’s central research focus is the study of hereditary neurodegenerative diseases in cell culture and mouse models, and she became involved with SMA research after moving to Indianapolis and joining Dr. Elliot Androphy’s research lab.