Meet Dr. Rocio Gomez-Pastor, whose HDSA HD Human Biology Project Fellowship helped her transition to university faculty and pursue long-term study of Huntington’s disease. Read about what drew Dr. Gomez-Pastor to the field of HD research, how brain cells assemble an army to fight off disease, and what it’s like to be a part of the global scientific community that studies HD.

What has the grant support from HDSA meant to you?

I’m very proud and grateful for this opportunity – it meant a lot to me to get this grant. It gave me the time to work on getting my results published, helped me to get attention and support from the HD community, and allowed me to understand whether the work could be impactful for patients. The Human Biology Project gave me the opportunity to establish collaborations with international researchers, and led me to think about my career goals. I was supported by this grant and by the expectations of the HD community during the process of applying for jobs, and right now I am establishing myself as an HD researcher with my own lab at the University of Minnesota.

What could the community do to attract more dedicated researchers like yourself to pursue HD research?

I think we need to collaborate more with professors who are asking specific questions about different diseases. We also need to talk about HD and motivate young researchers to get into the field. It would be wonderful to be able to collaborate more with doctors and researchers working at a clinic, like an HDSA Center of Excellence. I intend to engage new students at Minnesota. The more public we can be, the more productive, and it is important to introduce and promote new young people in the community.

Can you tell us a little about your academic background and how you got involved in HD research?

I did my Bachelor’s in biochemistry and then my PhD in biology and genetics at the University of Valencia in Spain, where I worked on topics like aging and yeast genetics. The day after I got my PhD, my mother died. I had been thinking about continuing my career in academia, but I am an only child and I didn’t want to leave my father alone, so I took a job at a biotechnology company near home that was linked with my old lab. Because I had some spare time, I was still working in my PhD lab too. Different groups at the university knew I had graduated, and I had become an expert in techniques to assess oxidative stress. One of those groups was interested in Parkinson’s disease, and I became involved in a project where I started thinking about disease and protein homeostasis. I met my current PI Dennis Thiele at a conference, and thought it was time to restart my career overseas. I came to the US as a postdoc at Duke to study heat-shock proteins and chaperones and their importance in disease. I wasn’t in the field yet, but became curious about understanding how the cell’s machinery fails in Huntington’s Disease, and because my PI was well-connected with established scientists in the HD field, I was able to learn a lot about HD and set up great collaborations. Today, I’m setting up my own lab in Minnesota to study HD.

What do you like most about the field of HD research?

I have had the opportunity to attend HD conferences, and the scientists are a wonderful community who are all committed to understanding this devastating disease. There are very close collaborations – it is not super competitive like some fields, everyone is working towards the same goals. I love that about the community – leaders in the field encourage everyone to be collaborative and helpful. As a young scientist I felt completely included – like the doors were open for me and my research. I had the opportunity to leave my bench and shadow in a clinic, and to see the reality of what we are working against. I was amazed by how committed the teams were, and the patients and families. There is an amazing social work network bringing people together.

Have you had a mentor that stands out to you? Tell us how they helped you.

Cagla Eroglu, in the cell biology department at Duke. She studies how supporting cells and neurons communicate, and how huntingtin operates in establishing connections. She taught me all the neurobiology I know and we now have a great collaboration and friendship. I also want to emphasize how helpful and wonderful my mentor Dennis Thiele has been. He is very supportive of women in science and of everyone in his lab, and none of this would have been possible without his help. He’s a great example of how you can balance life and science at the same time – you can have a wonderful family life and be very productive.

 In layman’s terms, please tell us some highlights about your project funded through the HDSA HD Human Biology Project.

We work on a transcription factor – the way I like to describe it is that the transcription factor is the general that puts all of the soldiers in place that fight against protein aggregation. In HD, proteins build up and kill neurons, and the chaperone proteins are the soldiers fighting against it. My work is trying to understand how to put all those soldiers in the right place – what can we do to improve the general’s orders?

What is the potential impact of your project on HD research?

When the general cannot send orders properly, the chaperone soldiers fail, so the entire military falls apart. Proteins called kinases are regulating the function of the general. A potential therapeutic approach in the future would be to target these kinases in order to improve the general’s orders. Right now we are studying a kinase that is hyperactive in HD, leading to less activity of chaperones removing bad proteins. We want to know whether this extra kinase activity correlates with progression of HD, and we want to understand whether this particular kinase could be responsible for why certain neurons are so vulnerable in HD. Providing new targets like this might interest a pharmaceutical company in exploring a drug that can increase chaperone activity to fight against protein aggregation.

When you are not locked away in the lab, what do you do for fun?  Do you have a special talent that most people would not know about you?

I wish I had a special talent! I have a young daughter and we love to do a lot of outdoor activities with her. My husband and I both grew up near the beach so we really want to teach her to swim. We’ll go anywhere and everywhere that there is water.