SMA: Race is on to Conquer Devastating Childhood Disease
When a young child is slow to meet developmental milestones such as rolling over, crawling, taking his first steps – or perhaps reaches them and then slows or slides back in development – parents grow concerned and look for explanations.
For about 1 out of every 6,000 children that explanation will come as a diagnosis of spinal muscular atrophy (SMA), a disease that has been compared to Lou Gehrig’s disease in which nerve cells in the spinal cord waste away. SMA, a relatively common disease that has been underrecognized, underdiagnosed and underfunded, is the No. 1 genetic killer of children under the age of 2. There is no treatment, aside from palliative care. Still, the NIH has identified SMA as the neurological disease that has the greatest potential for a treatment or cure in the near term.
Umrao Monani, Ph.D., assistant professor of neurology, searches for potential treatment strategies using genetically modified mice that mimic the human disease. Studying mice, says Dr. Monani, whose work is supported by the New York-based SMA Foundation, is invaluable if treatments that improve and extend the lives of these children are ever to be found.
“We have many questions about the disease that we need to use mouse models to answer,” says Dr. Monani, who came to CUMC about a year ago and has been studying SMA for a decade. “For example, is muscle death a consequence of nerve cell death, or does it occur independently at the same time? One simply cannot replicate the cellular complexity of a whole organism in a culture dish. If the disease occurs in a whole organism, a human, then the most accurate way to study it is to do so in another tractable organism, a mouse. This is the only way one can accurately mimic the myriad cellular interactions that might play a role in causing the disease phenotype.”
Already, Dr. Monani’s work has yielded results that have important implications for a future treatment. His discovery that animals with SMA are born with a normal number of presumably healthy nerve cells shows that there is a window of time just after birth during which a treatment could prevent the disease from developing.
Other SMA investigators have recognized Dr. Monani’s achievement – his mouse models are now among the most widely used in SMA research. But it’s not the scientific accolades that keep him in the lab late at night.
“After I got my Ph.D., I was fortunate to meet kids with SMA at an event,” says Dr. Monani, who conducts his research in the SMA Center founded at CUMC in 2002. “They’re bright, happy kids, zooming around in their wheelchairs. What was sad for me was what their parents said later. ‘Even at three or four they ask: Why can’t I do the things my friends do?’ That was upsetting. If I can contribute in any tiny way, that’s enough for me.”