In her opening address, Eva Luise Köhler, Chair of the Foundation Council, emphasized the core mission of the Rare Disease Symposia: creating real prospects for people living with rare diseases. She highlighted the groundbreaking potential of precision medicine. Especially in cases where standardized treatments fall short, innovative genetic analyses and advanced data technologies can pave the way for personalized diagnoses and targeted therapies and, ultimately, new hope. Eva Luise Köhler expressed her heartfelt thanks to both longstanding and new partners for their financial support. She concluded with a powerful appeal to shape medical progress together responsibly, collaboratively, and always with a clear focus on the needs of people living with rare diseases.
Opening Keynote – From Genetic Clues to Targeted Therapies: Molecular Sleuthing with Big Impact
Professor Anna Greka, Harvard Medical School, Brigham and Women’s Hospital: „Unlocking the Secrets of Rare Diseases: How Precision Medicine is Turning Discovery into Hope“
To open the symposium, Anna Greka, M.D., Ph.D. (Broad Institute of MIT and Harvard), took the audience on an impressive journey from the identification of rare genetic mutations to the development of targeted therapies. With great clarity and scientific passion, she illustrated how modern high-throughput technologies and “molecular detective work” are not only deepening our understanding of rare kidney diseases, but also contributing valuable insights into more common conditions such as Alzheimer’s and retinal diseases.
Drawing from current research projects – including the ambitious flagship initiatives RADICAL (Rare Disease Cures Accelerator) and Ladders to Cures – Anna demonstrated how individual genetic clues can be systematically translated into new treatment approaches. Her vision: a scalable “cellular factory” capable of rapidly decoding disease mechanisms and leveraging them for new therapeutic strategies.
Greka emphasized the essential role of perseverance, collaboration, and hope:
“We live in a golden era of biomedical discovery!” The tools and knowledge are in place, she noted what’s needed now is the shared determination to turn them into real help for patients.
We are deeply grateful for this compelling call to action: to boldly harness the potential of precision medicine for tangible progress and real improvements in the lives of the patients.
The question of how to make this promise a reality was explored in four thematic sessions, bringing together leading international experts, affected individuals, and stakeholders from healthcare, research, and policy. At the heart of every session: the goal of measurably improving care for people with rare diseases today and in the future.
Session 1: Case Study Neuronale Ceroid-Lipofuszinose (NCL) – Understanding and Addressing a Rare Neurological Disorder
Session 2: Unlocking the Power of Data in Rare Diseases
Session 3: Spotlight Talks: Cutting-Edge Developments – Recognizing, Understanding and Treating Rare Diseases
Session 4: Looking ahead: Visions and Advances for Tomorrow’s Healthcare of Rare Diseases
The bottom line: Precision medicine needs collaboration and conviction
The 9th Rare Disease Symposium made it abundantly clear: precision medicine is more than technological innovation. It is a promise of better care through targeted therapies. But it won’t fulfill itself. It requires committed collaboration, ethical responsibility, and a steadfast focus on the needs of those living with rare diseases, especially when resources are limited.
With innovative research, participatory cooperation, and an ethically grounded approach, we can ensure that these advancements reach those who need them most — globally, equitably, and sustainably.
Our heartfelt thanks go to all contributors, speakers, and participants for their dedication. We look forward to continuing the dialogue!
Impressions from the 9th Rare Disease Symposium – June 20, 2025
Photos: Andrea Katheder
We extend our heartfelt thanks for the financial support provided by our partners:
Pfizer Pharma GmbH, Takeda Pharma Vertrieb GmbH & Co KG, Sanofi-Aventis Deutschland GmbH, Alexion Pharma Germany GmbH, Chiesi GmbH, Ipsen Pharma GmbH, UCB Pharma GmbH, and PTC Therapeutics Germany GmbH.
