On October 22-23, 2025, the Alpha-1 Europe Alliance hosted a highly engaging webinar series titled “DNA & RNA: Understanding the Blueprint Behind AATD”, describing in plain language the molecular mechanisms underlying Alpha-1 Antitrypsin Deficiency (AATD).
We were honoured to welcome Marion Bouchecareilh, PhD, a leading AATD researcher from CNRS – Centre National de la Recherche Scientifique, as our guest speaker.
Dr. Bouchecareilh leads a French research team focused on elucidating the mechanisms of AATD, aiming to identify co-factors contributing to liver injury and to discover biomarkers and therapeutic targets to improve patient management. Her expertise is reflected in over 46 publications in top scientific journals.
Understanding AATD: From cells to genetic variants
The webinar was delivered over two sessions, covering a range of foundational and more advanced topics:
- Cellular basics: An introduction to what a cell is and the role of hepatocytes in liver function.
- Essential molecular components: A detailed look at DNA and messenger RNA (mRNA) and how these molecules underpin protein production.
- AATD Variants: Exploration of the Z-AAT variant and its impact on liver and lung health.
- Therapeutic strategies: Cutting-edge genetic approaches including CRISPR-Cas9, base editing, and RNA editing, highlighting their potential benefits, limitations, and associated risks.
Participants gained a clear understanding of how DNA and RNA guide cellular processes and how genetic and molecular interventions could offer new treatment avenues for AATD. The session also provided valuable context on emerging therapies and the ongoing research efforts aimed at improving patient outcomes.
Bridging science and community
The Alpha-1 Europe Alliance would like to extend our sincere thanks to Dr. Marion Bouchecareilh for sharing her knowledge and leading an informative discussion on these complex topics. Your expertise helped translate intricate molecular science into actionable insights for our patient community, researchers, and healthcare professionals alike.
We also want to thank our Alpha-1 Europe community for participating and contributing to the discussion. Your engagement demonstrates the power of collaboration and shared learning. Together, we continue to build collective knowledge and capabilities, fostering a stronger, better-informed community committed to improving research, treatment, and care for people living with AATD.
Stay tuned for future educational webinars from the Alpha-1 Europe Alliance, as we continue to bridge science and community to advance understanding, advocacy, and patient care across Europe.
