Marka van Blitterswijk, M.D., Ph.D., receives 9th Paulo Gontijo International Award in Medicine for ALS research

Marka van Blitterswijk, M.D., Ph.D.

Marka van Blitterswijk, M.D., Ph.D. (NSCI ’14), Department of Neuroscience at Mayo Clinic in Florida, received the 9th Paulo Gontijo International Award in Medicine for scientific research related to discovery of the cause and cure for amyotrophic lateral sclerosis (ALS). The award has the support of the International Alliance of ALS and the Motor Neuron Disease Association and is considered by an international jury committee.

Dr. van Blitterswijk’s work attempts to understand the variability among patients with ALS, including the age at which symptoms first occur, presence of dementia, disease progression and survival. Most of her patient-oriented research has focused on one particular cause of ALS – a mutation in a gene called C90RF72. Together with her colleagues, she has examined specific candidates, but she also is using more sophisticated large-scale approaches to find abnormalities in DNA and RNA that might account for the variability. These abnormalities could point to promising disease modifiers, biomarkers and therapeutic targets, translating her research into clinical practice. Her work emphasizes that the explanation is much more complex than previously thought and that an intricate combination of factors is responsible for the observed variability.

Rosa Rademakers, Ph.D.

One of Dr. van Blitterswijk’s mentors, Rosa Rademakers, Ph.D. (NS ’07), also in the Department of Neuroscience at Mayo Clinic in Florida, received the 4th Paulo Gontijo International Award in Medicine in 2012 for her work identifying a genetic alteration found in patients with ALS and frontotemporal dementia (FTD). Dr. van Blitterswijk works in Dr. Rademakers lab.

Dr. van Blitterswijk also is an assistant professor of neuroscience in the Mayo Clinic College of Medicine and Science.