Spotlight on Dr. Giulietta Riboldi
Giulietta Riboldi, PhD, a post-doctoral fellow at the Marlene and Paolo Fresco Institute for Parkinson’s disease and Movement Disorders at NYU Langone Health, is the recipient of a 2018 APDA Post-Doctoral Fellowship for her work studying how mutations in a protein called glucocerebrosidase (GBA) mutations lead to the development Parkinson’s disease (PD).
GBA is an enzyme that breaks down a large molecule in nerve cells called glucocerebroside. When both copies of the GBA gene are mutated, glucocerebroside accumulates in cells, causing Gaucher’s disease. Mutations in one (or both) copies of the GBA gene is also a genetic risk factor for the development of PD. However, only a small percentage of people with one GBA mutation develop the disease and it is not yet clear why some people with the mutation develop PD while others do not. This project investigates whether interactions with other genetic changes are responsible for why GBA mutations contribute to disease in some people and not others.
We asked Dr. Riboldi questions about her research:
Q: Why is it important to distinguish between people who carry the GBA mutation who develop PD and those who do not?
A: When patients manifest the first symptoms of the disease it means that the degeneration of the dopaminergic neurons in the brain has been ongoing for some time. Unfortunately, when we are dealing with neuronal cells it is difficult to replace what has already been lost. Thankfully, we are now learning more and more about the specific molecular mechanisms that may go awry in PD, including those involving GBA mutations. So far we only know that mutations in the GBA gene increase the risk of developing PD. However, the ability to identify patients with genetic mutations that place them at a higher risk of developing PD may soon significantly affect early treatment options. It is exciting to think that a condition that is known to be a sign of increased risk may one day become a marker that helps us to choose treatment.
Q: What if one of the readers of our newsletter wants to participate in your research, would they be able to?
A: The Fresco Institute research staff is available to discuss the study with patients or healthy controls who are interested in contributing to our project. Please call 646-501-4367 to learn more.
Q: What fuels your passion for your research?
A: First is the curiosity to understand how diseases develop, how they manifest, and what may be done to provide treatment and care. I am driven by the knowledge that there are answers to these questions – they just need to be discovered. Secondly, the continuous support and encouragement that I receive from many of my patients reminds me why medical research is important and keeps me focused on doing my part in the care of these disorders.
To read more about Dr. Riboldi’s APDA-funded research, please visit www.apdaparkinson.org/research-riboldi
To read more about genes and genetic testing visit A Closer Look blog www.apdaparkinson.org/doctor-blogs/a-closer-look/