Dr. Sahra Golghalyani, BfDI: How to Balance the Necessity of Processing and Privacy
Dr. Sahra Golghalyani, advisor at the Federal Commissioner for Data Protection and Freedom of Information (BfDI), opened the session with a central question: How can we use data on rare diseases responsibly without losing sight of the right to privacy? Especially in the field of precision medicine, connected and international datasets are indispensable, but they are also particularly sensitive.
Sahra explained how legal frameworks such as the GDPR can be combined with technical safeguards and clear design to make both possible: scientific progress and the protection of individual rights.
Pseudonymization, data minimization, access controls, and transparent consent models are essential just as much as international standards for cross-border collaboration.
“Responsible processing and sharing is possible,” she concluded. With smart frameworks, legal balance, and technical safeguards, science can advance while still protecting individuals. Her message: data protection should not be viewed as a barrier, but as a challenge to be actively shaped ensuring responsible and trustworthy research.
Dr. Daria Julkowska: The European Rare Diseases Research Alliance (ERDERA)
Following this, Dr. Daria Julkowska, Scientific Coordinator of the European Joint Programme on Rare Diseases, presented the EJP RD and its evolution into the European Rare Diseases Research Alliance (ERDERA), a key initiative for pan-European integration of research, care, and data infrastructure. The program aims to strengthen Europe’s leadership in rare disease research and measurably improve the health and lives of over 30 million people affected.
Daria illustrated how ERDERA functions as an integrated, data-driven ecosystem: featuring virtual platforms, connected registries, high-performance genomic data analysis, and binding standards for data protection and ethical practice.
With a total budget of over €385 million, the program supports new cross-border research projects, clinical studies, and training initiatives creating a sustainable link between science, patients, care systems, and industry across Europe.
“We aim to make Europe a world leader in rare disease research,” is the clear mission. As Daria emphasized, this will not be achieved by building parallel structures, but by connecting and strengthening existing ones. Her presentation made one thing clear: progress in precision medicine requires not only cutting-edge technology, but also close collaboration and reliable structures that make it possible.
Prof. Dr. Lorenz Grigull (ZSE Bonn): UNRARE ME – Establishing New Joint Paths for Patients and Health Care Professionals
The importance of new approaches to collaboration and communication in the field of rare diseases was underscored by Prof. Dr. Lorenz Grigull. In his presentation, the head of the Center for Rare Diseases in Bonn introduced unrare.me, a digital platform that connects people without a clear diagnosis as well as those with rare or chronic conditions with doctors, medical professionals, and researchers.
The goal is not only to pool medical knowledge but also to make patient experiences more visible and thereby help shape a healthcare system that is more humane, faster, and easier to navigate.
The platform operates on multiple levels: it facilitates dialogue between patients, healthcare professionals, and researchers, supports exchange on specific symptoms, and uses AI-powered tools to intelligently link case patterns in line with a “matching logic for rare diseases.” Already today, more than 5,000 people are using the platform.
“Health needs more than data! It needs dialogue, trust, and digital spaces where all perspectives can come together,” Grigull emphasized. This is exactly what unrare.me aims to provide: a place where people don’t just search, but are also found. His presentation made one thing clear: innovation doesn’t happen only in the lab, it often arises where people with vastly different personal and professional backgrounds share their experiences and walk new paths together.
Dr. Andreas Jedlitschka (Fraunhofer IESE): SATURN — Smart Doctor Portal for Patients with Unclear Diseases
The session concluded with a presentation by Dr. Andreas Jedlitschka from Fraunhofer IESE, who introduced SATURN, a digital physician portal designed to support the diagnosis of unclear or rare diseases using artificial intelligence. The aim is to ease the burden on doctors in clinical practice and help them reach well-founded preliminary diagnoses more quickly even in complex cases.
What makes SATURN unique is its integration of three AI approaches: rule-based reasoning, case-based reasoning, and machine learning. The platform compares current patient data with historical case patterns and established clinical guidelines.
This enables the generation of transparent diagnostic suggestions that can meaningfully support physicians, particularly when faced with rare or difficult-to-classify symptom patterns.
Using a case example from endocrinology, Jedlitschka demonstrated how SATURN correctly identified a rare hormone resistance that had initially puzzled even experienced specialists.“AI is not a replacement, but a cognitive enhancer in everyday clinical practice,” Jedlitschka emphasized. However, this requires a solid data foundation, transparent recommendation logic, and seamless integration into existing systems. His talk made one thing clear: digitization holds tremendous potential for diagnostics when used to intelligently complement medical expertise.
Insights into the individual sessions of the 9th Rare Disease Symposium can be found here:
Keynote: „Unlocking the Secrets of Rare Diseases: How Precision Medicine is Turning Discovery into Hope“
Session 1: Case Study Neuronale Ceroid-Lipofuszinose (NCL)
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
Photos: Andrea Katheder
We extend our heartfelt thanks to our partners for their financial support: 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.
