Spotlight – The Hauser Lab

What is your research about? 

We study how genetic changes damage brain cells and lead to neurodegenerative diseases like Ataxia. Using patient-derived human cell models, we investigate: 

• What goes wrong inside cells at the molecular level (genes, RNA, proteins)? 

• What goes wrong inside cells at the cellular level (cellular growth, function, communication)? 

• Why do different mutations cause similar disease symptoms?  

A major goal of our work is to translate these findings into new treatment strategies, including personalized approaches. In particular, we are exploring targeted therapies that can selectively silence harmful gene variants while preserving the normal function of the healthy gene. This is important because brain cells still rely on the healthy version of the gene to function properly.  

Why do you do this research? 

We focus on these questions because for many rare neurodegenerative diseases, only treatments that relieve symptoms are available. These symptomatic treatments are a good start. However, someday we want there to be treatments targeting the root cause of Ataxia. 

To change this, we need to better understand what causes the diseases at a molecular and cellular level. This includes how abnormal proteins build up and affect brain cells. This knowledge can help us identify the earliest stages of disease, when treatment may be most effective. Our goal is to support the development of more targeted and personalized therapies for patients with rare and ultra-rare conditions that have a major impact on their lives and families.