The human brain is made up of many different types of cells. Each of them has slightly different roles in a healthy brain. The goal of our research is to understand how SCA1 makes these different cells sick in different ways. We want to check if different parts of the brain show distinct or unique changes because of SCA1.
We are also interested in identifying which physical changes in the brain lead to specific SCA1 symptoms. We do a lot of our research on a specific type of brain cell called glial cells.
Why do you do this research?
Most brain research focus on neurons. But 50% of the cells in your brain aren’t neurons, they are glial cells! Glial cells help support and regulate neuronal activity, but they often get overlooked. But more scientists like us are researching glial cells. They do a lot for your brain.
If we want to develop successful therapies for SCA1, we need to understand how glial cells are impacted. Without that knowledge, we will not have the full picture. That’s why we do this work.
We have a number of fluffy companions in our lab. Please check the Creative Catalysts page of our Lab Website for pictures!
Our laboratory uses multiple methods to explore the underlying causes of different neurodegenerative and neurodevelopmental disorders. Some diseases we study affect children, like Rett Syndrome. Others affect adults, like spinocerebellar ataxia type 1 (SCA1), Alzheimer’s disease (AD) and Parkinson’s disease (PD). We also research how healthy brains grow and develop.
We first seek to understand the mechanism by which a mutant protein causes disease, allowing us to more thoughtfully and effectively develop therapeutic options for the diseases we study. Our work in SCA1 demonstrated that lowering levels of the disease-driving protein is beneficial in the course of disease, informing our approach to the study of other diseases of the brain.
Why do you do this research?
We do this research to help the patients, families and caregivers affected by the diseases we study. Most of the disorders we study currently have no or very few treatment options available, and we hope to help in changing that.
Our lab began with Dr. Zoghbi seeing patients in the clinic who were diagnosed with Rett Syndrome and SCA1. Work with these patients allowed for the discovery of the genes causing these diseases. Today, we hope to aid in understanding how these diseases work and to develop therapies that can then be brought back to the clinic for patients. Furthermore, we hope our findings and the tools we’ve developed will aid in the study of other neurodevelopmental and neurodegenerative disorders.
On April 8, 1993, both Dr. Huda Zoghbi and Dr. Harry Orr identified the gene, ATXN1, which when mutated, is responsible for causing SCA1. You can read about this discovery here.