Ataxia awareness

Ataxia awareness

Thought leaderDr. Lauren MooreChief Scientific OfficerNational Ataxia Foundation (NAF)

In this interview we talk to Dr. Lauren Moore from the National Ataxia Foundation on ataxia and how the NFL is helping to raise awareness of the condition.

Could you please introduce yourself and tell us about your role at the National Ataxia Foundation (NAF)?

I am Dr. Lauren Moore, NAF's chief scientific officer. I develop our research funding strategy, lead research staff, and manage NAF's relationships 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 top ataxia researchers in the country, Dr. Henry Paulson. I then spent several years as a senior scientist at a pharmaceutical company, where I continued to work on the development of gene silencing therapies for ataxias. I joined NAF in early 2022 as Chief Scientific Officer.

My passion for working with ataxia comes from my own family's history of SCA3 (Spinocerebellar Ataxia, Type 3), one of the most common inherited forms of ataxia. As a child, I knew my grandmother was confined to a wheelchair and spoke in garbled language, but I just thought that was part of getting older. I didn't know that she was affected by a hereditary form of ataxia or that I and my family were also at risk of it. 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 of ataxia.

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Her vision at NAF is to see a world without ataxia. Could you please provide an overview of what ataxia is and how it affects the individual?

Generally, “ataxia” refers to clumsiness or a loss of coordination and balance that is not due to muscle weakness. It results from brain or nerve dysfunction and presents with symptoms such as stumbling, slurred speech, lack of coordination, and deterioration of fine motor skills.

Damage to various 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 balance and coordination processing center. The cerebellum receives sensory information about your body and the environment around you to help you make quick and precisely coordinated movements. For example, your cerebellum helps you predict how far a cup is from your hand or how much force your hand needs to use to grasp it. Damage to the cerebellum can significantly increase the risk of spillage while performing any of these tasks. Individuals with progressive ataxia have increasing difficulty walking, often leading to the use of assistive devices such as walkers and wheelchairs. At my family gatherings you would find many more walkers and wheelchairs than you would expect for my relatives' ages. The cerebellum also helps coordinate eye movements, speech, and swallowing, which can greatly influence many other aspects of daily life and lead to early death.

There are over a hundred types of diseases that can lead to ataxia. Unfortunately, with the exception of some treatable illnesses, for most patients there are no existing medications to slow or stop the worsening of symptoms over time. There is a major unmet need in the ataxia community for the development of new effective treatments, which can only be achieved through continued advances in ataxia research.

Are there people who are at higher risk of ataxia than others?

Yes. People at greatest risk for ataxia are those with a family history of hereditary ataxia. For example, since my father suffers from a dominantly inherited type of ataxia, my siblings and I each have a 50/50 chance of also developing the disease. Acquired forms of ataxia can be caused by many other neurological diseases, such as: B. Head trauma, stroke, or exposure to certain medications or toxins.

Although there is currently no cure for ataxia, there are a number of treatments that help manage the symptoms. Can you describe some of the treatments available?

Secure. Treatment for an acquired form of ataxia involves treating the underlying cause. Ataxia caused by head trauma, for example, would require treatment regimens to address the head trauma - usually things like physical and mental rest to allow the brain to recover, or to ensure that the trauma has not caused bleeding or swelling of the brain.

However, in hereditary forms of ataxia, the condition typically worsens over time. The goal of treatment is to improve quality of life and requires a more individualized approach because each person's experiences 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 spasms and stiffness.

Recently, the NFL added ataxia to its concussion protocol. How has this announcement helped raise awareness of ataxia?

Before the NFL announcement, the word “ataxia” was not known to people who were not affected or who did not know anyone who was affected. Now I see it discussed casually in the news and on social media. Increasing public awareness of ataxia and its associated symptoms is great for those affected by the rare disease. They will find it easier to explain their condition to their friends and family. It will also help others empathize with the daily struggles that ataxia can cause and impact every aspect of a person's life.

We hope it can also attract attention and much-needed funding to encourage more investment in ataxia research and drug development.

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Despite its inclusion in NFL concussion protocols, ataxia still requires more attention worldwide. What else should governments and policymakers do to raise awareness of ataxia?

Governments and policymakers can create and support laws that benefit people affected by rare neurological diseases such as ataxia. You can take the time to hear the stories of people in the ataxia community and understand how the disease impacts 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 look like?

I am absolutely confident! In the office we often say that we are working to get ourselves out of business and we would all like to do that. The prospects for the future 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 were sent home to “just deal with it.”

Now we have dedicated ataxia clinics across the US and recommended care guidelines to treat a person's symptoms as much as possible. There are also numerous pharmaceutical companies actively working on potential treatments for ataxia. You couldn't have said that ten years ago.

How can people get involved and help support the mission of the National Ataxia Foundation?

There are a number of ways you can support NAF's mission to accelerate the development of treatments and cures while working to improve the lives of people with ataxia. The easiest way to get involved is to join NAF as a free member. We have more than 11,000 members, including patients, family members, researchers, clinicians, nonprofit professionals and pharmaceutical company professionals. Our members are kept up to date with all news in the Ataxia community. To log in, go to www.ataxia.org/JoinNAF

To help financially, a one-time donation or a monthly donation is a quick and easy way to get involved. Planning a fundraiser in your community or starting a Facebook fundraiser is another way to raise awareness and provide financial support. For more information, see www.ataxia.org/ways-to-give

What is Ataxia? Learn more about ataxia and educate others.Play

What's next for you and your work at NAF? Are you involved in exciting projects?

We have a lot of exciting projects going on right now. You'd have to spend a lot more time with me to learn more about all of our ongoing programs, so I'll just mention a few upcoming events that I'm really looking forward to.

In a few weeks we are working with Friedreich’s Ataxia Research Alliance and Ataxia UK to host the first one International Congress for Ataxia Research. The conference will likely be one of the largest gatherings of ataxia researchers and clinicians ever. It will include over 70 ataxia-focused presentations, over 200 posters and a variety of panels and workshops. Topics presented include: gene discovery, imaging, disease mechanisms, cerebellar non-motor circuits and functions, new and existing therapeutics, and biomarkers.

In March 2023 we will be hosting our 66th Annual Ataxia Conference (AAC). This conference is for patients, their caregivers and their families. It is designed to provide updates on drug development progress, share helpful information on all aspects of living with ataxia, and create a community. The world's top ataxia experts present lectures on a variety of topics.

We are planning one too Clinical training for ataxia (ACT) Program for Fellows with Movement Disorders. There is a real need for more neurologists with advanced training in ataxias. ACT aims to meet this need by bringing together young physicians for a two-day intensive training program to gain practical knowledge about the diagnostic evaluation and treatment of ataxias.

Where can readers find more information?

• www.ataxia.org/what-is-ataxia/
• www.ataxia.org/change-to-nfl-concussion-protocols-brings-awareness-to-ataxia/
• www.ataxia.org/ways-to-give

About Dr. Lauren Moore

Lauren Moore, PhD, has built a reputation in the ataxia research community as a collaborative and trustworthy colleague. She is currently Chief Scientific Officer at the National Ataxia Foundation. Previously, she worked for a clinical-stage biotech company where she served as principal investigator for several therapeutic programs aimed at developing gene silencing therapies for rare neurological diseases such as ataxia. She worked as a Graduate Research Assistant at the University of Michigan Rackham Graduate School under the direction of Dr. Henry Paulson.

Dr. Moore received her PhD in neuroscience from the University of Michigan, where her dissertation was titled “Toward the understanding and development of antisense oligonucleotide-based therapies for spinocerebellar ataxia type 3.” She holds a BS in Biomedical Physics from Northeastern University.

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