In this interview, we talk with Dra. Lauren Moore of the National Ataxia Foundation on ataxia and how the NFL is helping raise awareness of the disease.
Could you please introduce yourself and tell us about your role at the National Ataxia Foundation (NAF)?
I am Dr. Lauren Moore, Chief Scientific Officer of NAF. I develop our research funding strategy, lead the research department staff, and manage NAF’s relationship with the Ataxia research community, Ataxia clinicians, and the pharmaceutical industry.
I began my career as a graduate research assistant at the University of Michigan for one of the nation’s leading Ataxia researchers, Dr. Henry Paulson. I went on to become a senior scientist at a pharmaceutical company for several years, where I continued to work on developing gene silencing therapies for ataxias. I joined NAF as Chief Scientific Officer in early 2022.
My passion for working with ataxia stems from a family history of SCA3 (Spinocerebellar Ataxia, Type 3), one of the most common inherited forms of ataxia. As a child, I knew my grandmother was in a wheelchair and had a slurred speech, but I just thought it was part of getting older. I did not realize that she was affected by a hereditary form of ataxia or that I and my family were also at risk. It wasn’t until my father started showing similar symptoms in his early fifties that I started asking questions and learning about our family history with ataxia.
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At NAF, your vision is to see a world without ataxia. Could you please give an overview of what ataxia is and how it affects people?
In general terms, “ataxia” refers to clumsiness or a loss of coordination and balance that is not due to muscle weakness. It is the result of brain or nerve dysfunction and presents symptoms such as stumbling, slurred speech, lack of coordination and impaired fine motor skills.
Damage to different parts of the nervous system can cause ataxia, but in many cases, it is caused by damage to a part of the brain called the cerebellum, which serves as the brain’s processing center for balance and coordination. The cerebellum takes in sensory information about your body and the environment around you to help you make quick and precise coordinated movements. For example, the cerebellum helps you predict how far a cup is from your hand or how much force your hand must exert to hold it. Damage to the cerebellum can greatly increase the risk of spilling when performing any of these tasks. People with the progressive type of ataxia have increasing difficulty walking, often leading to the eventual use of assistive devices such as walkers and wheelchairs. You will find many more walkers and wheelchairs at my family gatherings than you would ever see from the ages of my relatives. The cerebellum also helps coordinate eye movements, speech, and swallowing, which can affect many more aspects of daily life and lead to premature death.
There are more than a hundred types of diseases that can cause ataxia. Unfortunately, with the exception of some treatable diseases, for most patients, there are no existing drugs to slow or stop the worsening of symptoms over time. There is a great unmet need in the ataxia community to develop new effective treatments that can only come with continued progress in ataxia research.
Are there people at greater risk of ataxia than others?
Yes. People with a higher risk of ataxia are those with a family history of hereditary ataxia. For example, because my father has a dominantly inherited type of ataxia, my siblings and I have a 50/50 chance of also having the condition. Acquired forms of ataxia can be caused by many other neurological conditions, such as head trauma, stroke, or exposure to certain drugs or toxins.
Although there is currently no cure for ataxia, a number of treatments are available to help manage its symptoms. Can you describe some of the treatments available?
For sure. Treating an acquired form of ataxia involves addressing the underlying cause. Ataxia caused by head trauma, for example, would require treatment regimens to address the head trauma, usually things like resting physically and mentally to allow the brain to recover or making sure the trauma doesn’t cause any bleeding or brain swelling .
However, for inherited forms of ataxia, the condition usually worsens over time. The goal of treatment is to improve quality of life and requires a more individualized approach because each person’s experience and symptoms are different. Common treatment options include speech and language therapy, occupational therapy, and physical therapy. Some symptomatic treatments also help control tremors and reduce cramps and stiffness.
The NFL recently added ataxia to its concussion protocol. How has this ad helped raise awareness of ataxia?
Before the NFL’s announcement, the word “ataxia” was not well known to people who were not affected or did not know someone affected. Now, I see it casually discussed in the news and social media. More public awareness of ataxia and its related symptoms is great for those affected by the rare condition. It will be easier for them to explain their condition to their friends and family. It will also help others empathize with the daily struggles that ataxia can cause, affecting every aspect of a person’s life.
We hope it can also attract much-needed attention and funding to drive further investment in Ataxia drug research and development.
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Despite its incorporation into the NFL’s concussion protocols, ataxia still requires more awareness globally. What more should governments and policy makers do to help raise awareness of ataxia?
Governments and policy makers can create and support legislation that benefits people affected by rare neurological diseases, such as ataxia. They can take the time to listen to the stories of people in the Ataxia community and understand how the disease affects their lives.
Are you hopeful that with continued awareness, funding and research into ataxia, we will one day see a cure? What would a world without ataxia be like?
I am absolutely hopeful! In the office, we often say that we are working to close the business, and that is something we would all like to do. The future prospects have only become more promising during my last decade working in Ataxia research and drug development. I expect this trend to continue as our understanding of the disease process for inherited forms of ataxia improves. In the past, patients diagnosed with a progressive form of ataxia were told there was nothing they could do and sent home to “just deal with it.”
Now, we have dedicated Ataxia clinics across the United States and recommended guidelines of care to address a person’s symptoms as much as possible. There are also numerous pharmaceutical companies actively working on potential therapies for ataxia. This is not something that could be said ten years ago.
How can people get involved and help support the mission of the National Ataxia Foundation?
There are several ways to support NAF’s mission to accelerate the development of treatments and a cure while working to improve the lives of people living with ataxia. The easiest way to get involved is to join as a free member of NAF. We have more than 11,000 members, including patients, family members, researchers, physicians, nonprofit professionals, and pharmaceutical company professionals. Our members are up to date with all the latest news from the Ataxia community. To register, go to www.ataxia.org/JoinNAF
To help financially, making a one-time gift or becoming a monthly donor is a quick and easy way to get involved. Planning a fundraiser in your community or starting a Facebook fundraiser is another way to help with awareness and financial support. More information is available at www.ataxia.org/ways-to-give
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What’s next for you and your work at NAF? Are you involved in an exciting project?
We have a lot of exciting projects going on right now. You’d have to spend a lot more time with me to learn about all the programs we have going on, so I’ll just talk about a few upcoming events that I’m really excited about.
In a few weeks, we will be partnering with Friedreich’s Ataxia Research Alliance and Ataxia UK to host the first International Ataxia Research Congress. The conference is likely to be one of the largest gatherings of Ataxia researchers and clinicians ever. It will feature more than 70 Ataxia-focused presentations, more than 200 posters and a variety of panels and workshops. Featured topics include: gene discovery, imaging, disease mechanisms, non-motor cerebellar circuits and functions, emerging and existing therapeutics, and biomarkers.
In March 2023, we will host our 66th Annual Ataxia Conference (AAC). This conference is for patients, their caregivers and their families. It is aimed at providing updates on the progress of drug development, sharing useful information about all aspects of living with Ataxia, and building community. The world’s top ataxia experts come to present on a variety of topics.
We are also planning a clinical training program (ACT) for fellows with movement disorders. There is a real need for more neurologists with advanced training in Ataxias. ACT aims to fill this need by bringing together early career clinicians for an intensive two-day educational program to gain practical knowledge of the diagnostic research and treatment of ataxias.
Where can readers find more information?
About Dr. Lauren Moore
Lauren Moore, PhD has built a reputation as a collaborative and trusted colleague throughout the Ataxia research community. Currently she…