Search the Health Library
Get the facts on diseases, conditions, tests and procedures.
I Want To...
I Want To...
Find Research Faculty
Enter the last name, specialty or keyword for your search below.
School of Medicine
NeuroNow - Neuromuscular Specialist, Charlotte Sumner
Neuromuscular Specialist, Charlotte Sumner
Date: March 1, 2008
In the lab and in the clinic, Charlotte Sumner works to understand SMA, a devastating motor neuron disease in children.
I’ll never forget the first SMA conference I attended. I walked into the hotel lobby, and it was full of kids and scooters and wheel chairs. The kids were profoundly disabled but they were having a great time. I sensed that there was an unusually close connection between patients and families and the investigators. That inspires a truly collaborative culture within the research field. The meeting changed my life because from then on I knew I wanted to pursue SMA.
There is such an incredible need with SMA as there is currently no available treatment. It is the leading inherited cause of infant mortality. Children with the most severe form are weak at birth, and without respiratory support, they die within a couple of years of life.
We’ve investigated a class of drugs that seems to benefit SMA mice. We’ve been able to almost triple their life span. For our patients, we are working to develop and test similar drugs that might be efficacious in humans.
Hopkins is an unparalleled environment in which to do this type of work. Our department has a long history of excellence in neuromuscular disease, and that continues to be the case. Almost every one of our neuromuscular neurologists is a clinician-scientist, taking care of patients and working hard to better understand the diseases they treat.
With SMA, there’s much we don’t understand. But because it is caused by a single gene mutation, we have real targets to go after for therapeutic development. Hopefully, understanding SMA will also help us understand other motor neuron diseases