High-tech Brain Imaging Seeks to Unlock Secrets of a Genetic Disease


A team of researchers will use state-of-the-art brain imaging to unlock the secrets of a genetic disease, mucopolysaccharidosis (MPS), in a landmark study the team hopes will lead to new treatments for this devastating disease.

Patricia Dickson, MD, who directs the MPS Research Laboratory at Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center (LA BioMed), will lead a team of investigators from five universities around the country in the research funded with a $1.5 million, five-year grant the National Institutes of Health (NIH) recently awarded to the team. The team will be using the latest in brain imaging for the first time to study the brains of disease models with MPS.

“People with MPS build up a natural substance called glycosaminoglycans, or GAG, inside the cells of their bodies,” Dr. Dickson said. “When this happens in the brain, people with MPS suffer cognitive deterioration, memory loss and difficulty concentrating. Essentially, you have a teenager or young adult who is developing dementia.”

To figure out why, Dr. Dickson and her group will use high-resolution magnetic resonance imaging and diffusion tensor imaging to map the MPS brain to structural studies at the cellular level. Their goal is greater understanding of MPS brain disease, leading to new avenues of treatment. What they learn about MPS could also help researchers who are studying more common causes of dementia.

Since 2003, Dr. Dickson has been leading the effort to treat MPS type 1 disease by replacing the missing enzyme directly into the spinal fluid that bathes the brain and spinal cord. This approach was pioneered by Dr. Emil Kakkis, who developed the treatment now known as Aldurazyme at LA BioMed.

Aldurazyme, which is this year celebrating its 10-year anniversary as an FDA-approved treatment, has saved the lives of hundreds of people worldwide. Dr. Dickson and her team hope that their research will lead to even better treatments for people living with MPS.

Dr. Dickson has also recently received an NIH grant of $126,686 to study the role of the immune system in the effectiveness of Aldurazyme for the treatment of MPS type 1. She said some MPS1 patients’ immune systems reject the treatment, and researchers need a better understanding of this response and its impact.

The MPS Research Laboratory at LA BioMed also has been supported by the Ryan Foundation for MPS I children, Lauren’s Hope Foundation, the National Institute for Neurological Disorders and Stroke at the NIH, the Food and Drug Administration, the National MPS Society and the California Institute for Regenerative Medicine.

The NIH funding is through the National Institute of Neurological Disorders and Stroke, Award No. R01NS085381 and the Eunice Kennedy Shriver National Institute of Child Health and Human Development, Award No. R03HD074907.