Interview with Dr. Alexander Maxan, Director of Research and Strategic Partnerships at the Huntington Society of Canada

Conducted by Kristin and Jasper for Voices of Brain Injury

Kristin: Alexander, would you like to start by telling us a little about yourself and what inspired you to enter the field of research?

Alexander: Absolutely! My name is Alexander Maxan, and I have an academic background in neuroscience, which has shaped the trajectory of my career. I’m currently the Director of Research and Strategic Partnerships at the Huntington Society of Canada (HSC). While I’m no longer conducting research at the bench, I now work to support and strengthen the research landscape across the country. That includes supporting both clinical research— such as trials for investigational therapies—and academic, laboratory-based research into the biology of Huntington disease (HD) and related neurodegenerative disorders.

What initially drew me to neuroscience was a deep desire to better understand the biological mechanisms behind neurodegeneration and to contribute to the development of new therapeutic strategies. My interest is also personal. My grandfather lived with Alzheimer’s disease, and I grew up in a community where several families were impacted by Huntington disease. Witnessing how profoundly these conditions affect not only individuals, but their entire families and communities, motivated me to pursue research that could make a tangible difference in people’s lives.

Jasper: Thank you for sharing that. What were some of your primary research focuses when you were conducting research directly?

Alexander: During my master’s, PhD, and postdoctoral training, my research focused primarily on protein misfolding and propagation in Huntington disease. Specifically, I studied how mutant huntingtin protein aggregates form and spread across brain regions, contributing to disease progression. I also explored how these processes might relate to other neurodegenerative diseases that involve similar protein pathologies, such as Alzheimer’s and Parkinson’s disease.

Throughout my academic career, I’ve been especially passionate about translational research: bridging the gap between laboratory discoveries and clinical applications. I’ve always believed that science should ultimately serve individuals, and that means building partnerships that support innovation aligned with the real needs of individuals and families affected by these neurological conditions.

Jasper: What kinds of models or techniques have you or your teams used to study Huntington?

Alexander: I have used a range of models and techniques to study HD, each offering unique insights into different aspects of the condition. These include in vitro cellular models, like immortalized cell lines and neurons derived from induced pluripotent stem cells (iPSCs), which help us study disease-related changes using a human genetic background. We’ve also worked with transgenic mouse models that carry mutant forms of the HTT gene. These models are essential for understanding disease progression and for testing potential therapies in a whole-organism context.

Another critical resource is post-mortem human brain tissue, generously donated by individuals with Huntington disease. This tissue allows us to examine the real-world pathology of the disease and validate findings from experimental systems.

On the technical side, I have used molecular tools such as CRISPR-Cas9 for gene editing, advanced imaging techniques like fluorescence and confocal microscopy, and assays to monitor protein aggregation, neuronal function, and cellular stress responses. These approaches help us explore the underlying biology of the disease in fine detail, Researchers across the Huntington community are also using large animal models, including sheep and non-human primates, to better replicate the complex brain structure and disease features seen in humans. Organoids—three-dimensional mini-brain structures grown from stem cells—are also emerging as powerful tools for modeling disease in a more physiologically relevant context. And at the cutting edge, brain-on-a-chip technology is gaining traction. These microengineered systems combine human cells with fluidic circuits to mimic aspects of brain physiology, offering a promising platform for drug testing and mechanistic studies with high precision and scalability. These kinds of technological advancements and next-generation models are essential for accelerating discovery and bringing new treatments closer to the people who need them.

Jasper: Are there any current trials or research initiatives you're especially excited about?

Alexander: Absolutely—there’s a lot happening in HD research right now, and it’s an exciting time to be involved. I attend the annual Huntington Disease Therapeutics Conference hosted by CHDI in the U.S., which is one of the largest gatherings focused entirely on HD research. When the conference began about 20 years ago, there were just a couple of pharmaceutical representatives in the room. Today, it sells out with over 400 attendees, including dozens of companies—ranging from small biotech firms to major pharmaceutical players—all working on potential therapies for HD.

One major area of focus over the past decade has been "Huntingtin-lowering" strategies, which aim to reduce the production of the mutant huntingtin protein in the brain. The idea is that by lowering the levels of this toxic protein, we may be able to slow or even halt the progression of the disease. Several clinical trials targeting this mechanism are underway or recently completed, and while there have been both successes and setbacks, the field has learned a tremendous amount.

Recently, there’s been growing interest in targeting somatic instability, the phenomenon where the CAG repeat in the HTT gene continues to expand in certain cells over a person’s lifetime. This ongoing expansion may drive disease and progression. It’s a relatively new discovery, but it opens up an entirely new therapeutic angle, one that could potentially alter the course of the disease earlier and more precisely than previous strategies.

Jasper: What kinds of techniques are used to study somatic instability?

Alexander: Studying somatic instability—how the CAG repeat in the HTT gene expands over time in certain tissues, especially the brain—requires highly sensitive and precise molecular techniques. One of the key methods is single-molecule PCR or small-pool PCR, which allows researchers to amplify and analyze individual DNA molecules to detect subtle changes in repeat length that occur in specific cells or tissues.

Next-generation sequencing (NGS) technologies are also increasingly used to quantify repeat expansions across thousands of DNA molecules at once. Newer approaches like long-read sequencing are especially helpful, since they can directly read long stretches of repetitive DNA without breaking them up, making it easier to detect expansions and instability patterns accurately.

Researchers also use animal models and cell-based systems, including human iPSCs, to observe how somatic instability progresses in different cell types over time. By combining these tools with CRISPR-based gene editing and reporter assays, scientists can start to identify the genetic factors and cellular environments that influence instability—and ultimately how to control it therapeutically.

Jasper: You mentioned “Huntington lowering.” What specific approaches are researchers taking?

Alexander: “Huntingtin lowering” refers to therapeutic strategies aimed at reducing the levels of the mutant huntingtin protein, which is toxic to brain cells in people with Huntington disease. The goal is to slow or potentially halt disease progression by decreasing the amount of this harmful protein in the brain.

There are several different approaches being explored: Antisense oligonucleotides, RNA splicing modifiers and RNA interference, gene editing, and various small molecules are being trialed. Each of these approaches has its own challenges and advantages, and several are already in clinical trials. The field is actively learning from past studies, both the setbacks and the breakthroughs, to refine these therapies and improve their safety, specificity, and long-term impact.

Kristin: How long have you been with the Huntington Society of Canada?

Alexander: It'll be three years this fall. I’ve been involved in Huntington disease research for about a decade. When the Society posted a role to expand their research programming, it felt like the perfect fit. Now I oversee our research funding programs, industry partnerships, and knowledge mobilization efforts. I also work closely with HD-COPE, an international coalition of patient advocates ensuring the community’s voice is heard in drug development.

Kristin: Do you know how the Huntington Society was founded?

Alexander: Yes! It was founded in 1973 by Ralph and Ariel Walker in Cambridge, Ontario. They started with small meetings at their home kitchen table and eventually traveled across the country connecting with families. Ariel still occasionally attends events and does fundraising with us. She’s an incredible person.

Kristin: How does patient education fit into the Society’s work?

Alexander: It’s essential. Huntington disease is complex, not just medically, but also emotionally, socially, and genetically. Clear, accessible information is critical for individuals and families navigating the journey.

HSC provides a wide range of educational resources to help people understand the disease, its progression, and available care strategies. That includes printed and online materials, webinars, conferences, and personalized support from our network of Family Services team members across the country. These professionals work directly with individuals and families to help interpret genetic testing results, understand symptom management options, and plan for the future.

We also support community education by working with healthcare providers, social workers, and allied professionals to increase awareness and improve care across systems. And through partnerships with organizations like HDBuzz, we help share research updates in plain language so families can stay informed about the science and feel empowered to participate in clinical trials or research advocacy if they choose.

Ultimately, education helps reduce fear and stigma, build resilience, and ensure that people affected by HD can make informed choices on their own terms.

Kristin: Could you also touch on genetic counseling?

Alexander: Certainly. Genetic counseling is an important part of the Huntington disease journey, and we work closely to ensure individuals and families have access to it. Since HD is a hereditary condition caused by a mutation in a single gene (HTT), people who have a family history often face difficult decisions about whether (and when) to pursue genetic testing.

Genetic counseling provides a safe, supportive environment to explore those decisions. A trained genetic counselor helps individuals understand the risks, the implications of testing positive or negative, and what those results could mean for their health, their family planning, and their emotional well-being. It’s not just about the science, it’s about providing space to consider the psychological, social, and ethical dimensions as well.

At the Huntington Society of Canada, we often help connect people with genetic counseling services and offer resources to prepare them for that process. Our Family Services team also provides follow-up support, because the decision to test (and the results) can have a major ripple effect across families.

We strongly advocate for informed decision-making. Genetic testing for HD is always voluntary, and there’s no “right” or “wrong” choice, just what’s right for each individual. In Canada, testing is available to adults over 18 with a family history, and both counseling and testing should be covered under provincial health care plans.

Kristin: Where can people access the most up-to-date support and resources?

Alexander: The Huntington Society of Canada offers a spectrum of support and resources accessible to anyone. On staff we have 17 social workers across Canada who provide direct support through our regional family services teams. People can reach out through our website and be connected to a regional worker who can offer personalized support.

Kristin: Do you know the average yearly cost of care for people living with Huntington disease?

Alexander: The most recent Canadian study (2021) estimates mean annual direct healthcare costs at $23,211 per person. Hospitalizations make up nearly 58% of that. Costs are much higher for those needing long-term care, and can average up to $41,400 per person. The highest cost drivers are hospitalizations, long‐term care, and home-based caregiver support. That’s why timely access to community and financial supports is critical,

not only to alleviate the individual’s burden but to manage healthcare expenditures effectively.

Jasper: What part of your work do you wish more people understood?

Alexander: I think people often focus on the research findings themselves: clinical trials, lab results, new discoveries... but what’s often overlooked is how much work goes into building and sustaining the research ecosystem that makes those discoveries possible. That means attracting and mentoring new talent, securing funding, fostering collaboration across disciplines and sectors, and ensuring that the research being done actually reflects the priorities and lived experiences of those affected by the disease.

My role is about creating the conditions where good science can thrive—not in isolation, but in close partnership with the HD community. Ultimately, I want to help build a research ecosystem where science and community inform one another, and where innovation is driven by both curiosity and compassion.

Kristin: Do you work on knowledge translation for the public?

Alexander: Making complex science understandable and meaningful to non-scientists is a big part of our work at the Huntington Society of Canada. It's essential that the families we serve have access to clear, reliable, and timely information about ongoing research, clinical trials, and emerging therapies so they can make informed decisions.

A big shout-out goes to HDBuzz (hdbuzz.net), an outstanding resource dedicated to translating cutting-edge HD research into accessible language. It was co-founded by HD researchers Dr. Ed Wild and Dr. Jeff Carroll and is now led by Dr. Rachel Harding, a professor at the University of Toronto and a passionate advocate for knowledge translation, and Dr. Sarah Hernandez from the Hereditary Disease Foundation in the United States of America. They do phenomenal work in breaking down complex studies into engaging, easy-to-understand updates for the global HD community.

At HSC, we support HDBuzz directly and also work to share their content through our newsletters, events, and social media, ensuring that the latest science is getting into the hands of the people who need it most.

Jasper: Have you noticed a broader shift in the research community toward accessibility?

Alexander: From my experience, the HD research community has long been collaborative and deeply community-oriented. Researchers openly share data, ideas, and even preliminary findings to accelerate progress. The conferences and meetings are welcoming,

inclusive spaces where scientists, clinicians, and community members come together to exchange knowledge and build partnerships.

We also organize lab tours for community members a few times a year, which provide a unique opportunity for people affected by HD to see the science firsthand and engage directly with researchers. These events are always very well received and help strengthen the connection between the research and the lived experience of the disease.

While accessibility has improved broadly in biomedical research, the HD field has been a leader in fostering openness and community engagement, which I believe is essential to driving meaningful progress.

Jasper: That’s fantastic. Is there anything else you’d like to share?

Alexander: I’d just encourage anyone interested to visit the Huntington Society of Canada’s website and check out HDBuzz for accessible, up-to-date information on Huntington disease research. There’s a lot of great resources available, whether you’re living with HD, caring for someone, or simply curious. Also, most countries have their own Huntington societies that offer localized support and information, so you can often find help close to home.

Thanks so much for the opportunity to share, there’s a lot of hope and progress in this field, and I’m optimistic about what the future holds.

Kristin: Thank you so much, Alexander. This has been such a meaningful conversation. We're excited to share your insights with our community.