Daniel Barvin, M.B.A. on ALS, FTD, and Genetics

Daniel Barvin joined Coya in 2021. Prior to joining Coya, Daniel spent his time as an advocate fighting for awareness and the rights of Presymptomatic Familial ALS patients. He started the first ever Familial ALS focused team through his work at I AM ALS. During this time, Daniel interacted with presymptomatic patients, researchers, pharma executives, and advocacy organizations. In addition, Daniel has held operations and design positions at Morgan Stanley, Dril-Quip and GE. Daniel received his B.S. in Mechanical Engineering from Case Western and his M.B.A from Rice University.

Scott Douglas Jacobsen: Today, we are here with Daniel Barvin. You were found to carry the genetic variant associated with amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD). For everyone listening, could you give us a refresher on what ALS is? And can you discuss what it means that you are a carrier of this specific gene??

Daniel Barvin: I am a carrier of, C9ORF72, a genetic variant that could one day cause ALS and or frontotemporal dementia (FTD), and I have lost a significant portion of my family to those diseases. I have experienced the loss and tragedy these diseases bring, which not only shortens one’s life but also strips away the dignity and ability to be a productive member of society. While I’ve seen what my future might hold, I’m fortunate that at 36, I am still healthy and fully engaged in life.

Jacobsen: Regarding this type of diagnosis, the first critical question for me is how previous generations did not know the genetic aspects of these diseases. Now, with advancements in screening technology, at what point did it become possible to take advantage of such screenings? At what point was it possible for people to get tested if they had a risk factor?

Barvin: My life was profoundly impacted by the ability to undergo genetic testing. I’ve built my advocacy around discovering these risks and taking action. The first time anyone could identify a genetic risk in the ALS space was when the SOD1 gene mutation was discovered in 1993. This discovery marked the first time it became possible to understand a genetic risk for ALS in a family. The genetic variant I carry, C9orf72 (Chromosome 9 Open Reading Frame 72 expansion), was discovered in 2011. Unfortunately, we lost my aunt in 2012, and no one understood that she carried the C9orf72 variant at the time. Although it was discovered, it took time for this information to reach mainstream medical awareness and for frontline neurologists to diagnose the disease and understand the importance of genetic testing. This knowledge is crucial for informing immediate family members about their risks, as these diseases are hereditary. Genetic testing requires multiple steps to take effect and be truly effective.

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My journey of discovery began in 2017 after losing my grandfather in 2000, my uncle in 2002, my aunt in 2012, and my father in 2016. I discovered that these losses were hereditary due to the C9orf72 variant in 2017, and I learned that I carried the variant in 2018. While the knowledge of these genetic variants existed, the resources for navigating genetic testing through counselors or receiving care were almost nonexistent. This experience of feeling alone inspired me to ensure that the rest of this community, now known to include about 500,000 people in the U.S. and millions globally, don’t go down the same blind path that I did.

That’s when I began working with other patients and co-founded a nonprofit called “End the Legacy” to raise awareness, advocate for change, and improve clinical care guidelines for the presymptomatic community.

Jacobsen: For many families affected by these diseases, it’s a brutal challenge to face. When these genetic markers run in the family, how many family members statistically would be expected to be affected?

Barvin: This is what is known as “penetrance.”

Jacobsen: What is the penetrance of this genetic variant?

Barvin: In early studies, when I first learned about my genetic status, researchers found the penetrance to be about 50% by the age of 58 and fully penetrant by the age of 80 , so it was quite high. In my father’s generation, 3 out of 4 siblings carried the genetic variant, and 3 out of 4 siblings developed ALS and/or FTD in their mid-forties.

My father passed away at 60 but had dementia for 15 years. So, anecdotally, the penetrance seems to be be very high. End the Legacy called for a renewed study, as earlier research was looking at a different subset of data and who developed ALS in this genetic case. We had them redo the study, and now they believe the penetrance is between 25% and 30%, which is still quite high. We can go in many different directions with this. Still, I truly believe that the future of healthcare and humanity lies in understanding our genetic predisposition for diseases.

Whatever the penetrance is for a genetic variant that activates a disease, we will strive through current medicine, longevity doctors, diet, exercise, and other means to tilt the scales in our favor. If there’s a 50% chance of the genetic variant leading to disease, how do I ensure I’m in the 50% that doesn’t develop it? This ties directly into the work at Coya Therapeutics, the company Dr. Howard Berman founded in 2020 and I joined shortly after. Our work is based on the idea that inflammatory pathways drive neurodegenerative diseases.

For someone like me, who has a predisposition to this disease, what am I trying to avoid? High inflammatory loads, head trauma, car accidents, massive gastrointestinal issues—anything that could trigger the disease. I was just at the dentist today, and while discussing my work, she mentioned that in school, they learned that 80% of patients with severe gum disease also have dementia. It’s possible to conclude that severe gum disease creates a massive inflammatory load in the body, which can eventually tip the scales and trigger one of these neurodegenerative diseases.

So, I’m trying to avoid all these precursor events in the hope that I won’t develop the disease. And if I do, hopefully, by then, Coya will have figured out how to alleviate symptoms and turn a fatal disease into something chronic and manageable—like what’s been done for HIV and AIDS.

Jacobsen: Thank you so much, Daniel. I appreciate it.

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