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.
Featured Content (Articles)
Thought Leadership • August 19, 2026
Advancing Rare Disease Research Through Patient-Centric Trial Design: Hear from Alexion R&D leader Gianluca Pirozzi
As Head of Development, Regulatory and Safety at Alexion, Gianluca Pirozzi channels his life’s experience with rare disease to inform his work at Alexion, ensuring clinical programmes are fueled by a patient-focused mindset.
Data Science and AI • August 13, 2026
AI to shorten the rare disease diagnosis
More than 10,000 rare diseases are known today, yet the path to diagnosis remains one of
medicine’s most complex challenges. Symptoms are often non-specific, allowing rare
conditions to hide in plain sight, especially when physicians may encounter them perhaps
once or twice in a career, if at all.
Thought Leadership • August 12, 2026
Keeping Patients at the Forefront of Rare Disease Innovation: Hear from Alexion R&D leader Seng H. Cheng
More than 10,000 rare diseases have been identified, yet fewer than 10% have an approved treatment available. For many patients and families, the urgency is compounded by rapidly progressive disease, long diagnostic journeys and limited therapeutic options.
Research and Development • August 12, 2026
Following the Science: The Evolution of Complement Inhibition in Rare Disease
Building on a legacy in complement science, we are advancing a new era of medicines focused on precision, specificity and improved outcomes for patients.
Research and Development • July 16, 2026
Advancing genomic medicine in rare diseases
Genomics, the science of how genes function and interact, is helping shape how rare diseases are understood and treated. With approximately 80% of rare diseases believed to have a genetic cause, genomic medicine for rare diseases may support more precise approaches that aim to address disease at its genetic source. This includes innovation across gene therapy, with the aim of expanding options for patients with rare diseases.
Health Equity • May 21, 2026
Understanding treatment impact and addressing disparities in rare disease care
Alexion’s leadership in rare disease is driven by the many individuals whose expertise, creativity and tenacity fuel our commitment to advancing innovative science.
Article • May 11, 2026
Tina’s Big Trip
Tina’s Big Trip is a heartfelt book that follow two sisters preparing for a journey to Italy as their family navigates the unseen complexities of rare disease.
Article • February 03, 2026
Pioneering new possibilities for the rare disease community
Rare Disease Day unites communities to drive strategies, funding, diagnosis and treatment, connecting local and global efforts for earlier, equitable care.
Clinical Trials • October 28, 2025
Shaping the future of R&D with real world insights into rare disease
Studying a rare disease often involves working with fragmented information, much like piecing together scattered pages of different books, each offering part of the story but rarely forming a complete picture. Researchers face this challenge due to small, often underdiagnosed, patient populations and limited understanding of how these diseases progress over time.
Diagnostics • September 17, 2025
Genomic Innovation to Support Newborn Screening of Rare Diseases
Today, while more than 10,000 rare diseases are known, recommended newborn screening panels cover only about 40 core conditions. This gap underscores the need for innovative approaches to expand the reach of newborn screening.
Veeva ID: GL/NP/0176