Dr. Marie Didiot The HD Human Biology Project allows HDSA to foster innovative patient-focused research to help the HD community better understand the biology of HD as it occurs in people. There is nothing more exciting or more relevant to HD than scientific observations made in people with the disease”. – George Yohrling, PhD, Senior Director, Mission and Scientific Affairs at HDSA.
Meet Dr. Didiot an HD researcher who was recently awarded HDSA HD Human Biology Project Fellowship. Read about what drew Dr. Didiot to the field of HD research, his/her passion for his/her work and how the support of the HD community is critical to advance important research.
What has the grant support from HDSA meant to you?
This grant support from HDSA means an invaluable recognition from my peer as part the HD community. It represents an important step from a post-doctoral researcher position to taking the lead on my own HD research projects focus on the metabolism of Huntingtin mRNA.
What could the community do to attract more dedicated researchers such as yourself to pursue HD research?
Fundraising is one of the major challenges in research. Providing awards in the HD community, as does HDSA, is encouraging researchers to focus on HD and attracted more students with new potential and skills.
Can you tell us a little about your academic background and how did you get involved in HD research?
I completed a PhD at the Strasbourg University in France on the Fragile X syndrome. As for HD, FXS is also an inherited neurological disorder associated with the expansion of trinucleotide repeats in the FMR1 gene. When I joined the RNA Therapeutics Institute as a post-doctoral associate, it was natural for me to start a collaboration with Prof. Neil Aronin and focus on the development and the understanding of the functionality of therapeutics for the treatment of HD. This led me in parallel to the study of the impact of HTT mRNA in the pathology of HD.
What do you like most about the field of HD research?
The brain is an extremely complex structure which makes its study challenging but fascinating. I really like to focus on the understanding of the neuropathology behind HD, in particular the impact of HTT mRNA.
I really like the collaborative effort of the HD community that involved people from all around the world with different backgrounds, different interests but all the same goal: the well-being of the patients and the treatment of HD.
What is your biggest challenge or struggle in the lab?
My lab is focused on the development of stabilized oligonucleotides for the treatment of neurodegenerative diseases, with a strong interest in Huntington disease. Our biggest challenge, shared by other labs, is to deliver those compounds in the brain and monitor their diffusion and efficiency on silencing HTT mRNA.
Have you had a mentor that stands out to you? Tell us how he/she has helped you.
I am really lucky to have 2 mentors who really stood out to me. During my first post-doctoral experience at Novartis, my mentor Dr. CN Parker, gave me advice regarding my research and highly encouraged me to develop collaborations for my career.
At the side of my current mentor, Prof. A. Khvorova, I am learning so much from her insight on research. She is an excellent researcher encouraging me and guiding me to be an independent researcher myself. She is a very good example in terms of leadership, ideas and how she built the team. She is a very understanding person who listens to us carefully and gives us wise advice.
In layman’s terms, please tell us some highlights about your project funded thru the HDSA HD Human Biology Project?
The main focus of researchers in HD community, is the involvement of the Huntingtin protein in the biology of brain cells. Only a little is known about the HTT messenger RNA (mRNA) which is an intermediary molecule that conveys the information between the gene (DNA) and the protein, product of the gene. I focused my project on understanding the impact of mutant HTT mRNA in the death of neuronal cells. Ultimately, this will help to design new treatments against HTT mRNA to decrease the production of the toxic HTT protein.
What is the potential impact of your project on HD research?
Understanding the molecular pathogenesis of HD involving the CAG repeats expansion impact on the metabolism and sub-cellular localization of HTT mRNA will have a direct impact on the development of oligonucleotide-based therapeutics against HD. The generation of supporting data will be crucial to ensuring the most promising oligonucleotides-based therapeutics advance to clinical trials as quickly as possible for the development of treatment targeting the cause of the disease in the patients and for the benefit of their family. In addition, this study will help to understand the impact of CAG repeat expansions on HTT mRNA metabolism and toxic gain of function involved in neuronal death.
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 love to travel with my husband, visit foreign countries and immerse into different cultures. This is one of the reasons that brought us and our 2 cats, from France, in the US for work.
