Addressing the Unmet Needs of the Amyloidosis Community
We spoke with Cristina Quarta, Executive Medical Director, about a group of rare diseases known as amyloidosis, the medical needs within this community and how her work as a cardiologist shapes her approach to research and development (R&D) for rare cardiac conditions.
What led you to a career in medicine?
My interest in medicine started as a little girl--I was watching a movie about a child that was sick, and I immediately turned to my dad, saying, ‘I want to cure sick children.’ I held onto that feeling and passion for medicine for years and eventually entered medical school in Italy.
I chose cardiology because I found the heart to be a fascinating organ; it pumps our blood to other organs, and emotionally, it’s where our passion comes from. However, it wasn’t until I attended a conference where I connected with my mentor and then began reading literature on amyloidosis, when I learned about the significant needs within the amyloidosis community--that was when I knew wanted to specialize in treating amyloidosis. I knew then this was an area where I wanted to make an impact.
What is amyloidosis and why focus on this particular disease?
Amyloidosis is not one disease, but rather, a group of complex rare diseases where certain proteins that circulate in our blood lose their normal structures. The proteins become abnormal, misfolding and clumping together, which makes them more prone to aggregate and deposit in tissues.1 These amyloids can deposit in the heart, kidneys and peripheral nerves.2 This can lead to organ damage and ultimately organ failure.2
One of the greatest challenges people living with amyloidosis face is receiving a timely and accurate diagnosis, because amyloidosis is considered a great pretender. Signs and symptoms of amyloidosis often resemble other diseases, which can lead to misdiagnosis and/or delayed diagnosis and treatment.3 Furthermore, there remains a need for additional treatment options.
How does your experience as a doctor influence your work in clinical research?
When I was a physician seeing patients, there were often no available treatment options to offer patients with advanced amyloidosis. I saw the desperate need for new approaches and that continues to fuel my passion for clinical research into new treatments. I believe that my experience working with and treating patients helps me to advance our research in a much more effective and empathetic way.
What excites and motivates your science?
At Alexion, I still have the opportunity to get to know patients and their caregivers, and the potential for our research to help address their unmet treatment needs motivates me every day.
We are advancing an exciting pipeline that aims to address a broad spectrum of amyloidosis, including ATTR-CM (transthyretin amyloidosis cardiomyopathy) and AL (amyloid light chain amyloidosis). When I think about the future, I am filled with hope.
To learn more about amyloidosis, check out these factsheets for AL amyloidosis and ATTR amyloidosis.
References
- Desport, E., Bridoux, F., Sirac, C., et al. AL Amyloidosis. Orphanet J Rare Dis 7, 54 (2012).
- Sanchorawala, V. Light Chain (AL) Amyloidosis: Diagnosis and Treatment. Clin J Am Soc Nephrol 1: 1331-1341, 2006.
- Amyloidosis – Symptoms and causes (2020, March 14). Mayo Clinic. Accessed at https://www.mayoclinic.org/diseases-conditions/amyloidosis/symptoms-causessyc-20353178. Accessed August 2024.
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