Mar 10, 2026
Successful Doctorate at ZMI/IMB: Research for Rare Diseases
On March 5, our former colleague Najia Ahmadi successfully defended her dissertation titled “𝐆𝐞𝐧𝐑𝐚𝐫𝐞 𝐂𝐃𝐌: 𝐀𝐧𝐚𝐩𝐩𝐥𝐢𝐞𝐝 𝐩𝐢𝐩𝐞𝐥𝐢𝐧𝐞 𝐟𝐞𝐚𝐭𝐮𝐫𝐢𝐧𝐠 𝐎𝐌𝐎𝐏 𝐟𝐨𝐫 𝐬𝐭𝐚𝐧𝐝𝐚𝐫𝐝𝐢𝐳𝐚𝐭𝐢𝐨𝐧 𝐨𝐟 𝐆𝐞𝐧𝐨𝐦𝐢𝐜 𝐑𝐚𝐫𝐞 𝐃𝐢𝐬𝐞𝐚𝐬𝐞𝐬 𝐝𝐚𝐭𝐚 𝐟𝐨𝐫 𝐦𝐮𝐥𝐭𝐢-𝐬𝐢𝐭𝐞𝐀𝐈-𝐝𝐫𝐢𝐯𝐞𝐧 𝐬𝐭𝐮𝐝𝐢𝐞𝐬”.
The aim of the work was to address the challenges in the diagnosis and research of Rare Diseases (RD) – such as fragmented data, small patient cohorts, and lack of standardization.
For this purpose, the pipeline developed by Ms Ahmadi uses the Observational Medical Outcomes Partnership Common Data Model (OMOP CDM) to syntactically and semantically harmonize heterogeneous clinical, phenotypic, and genomic data and make them usable for AI-based analyses.
The developed method was applied in 4 medical specialties – endocrinology, gastroenterology, pulmonology and hematology – and integrated data from more than 61,000 patients from several international research institutions, including the University Hospital Carl Gustav Carus Dresden, the University Medicine Frankfurt, as well as partner institutions in the USA. On this basis, multicenter prediction studies with various AI models could be conducted.
The work thus makes an important contribution to the interoperable use of genomic data (interoperability) and to the further development of AI-supported precision medicine in the field of RD.
It was created as part of the research work of our “Data Science & AI” area – under the supervision of Dr. Markus Wolfien.
Prof. Timo Siepmann (Clinic and Polyclinic for Neurology) chaired the examination committee, while our director Prof. Martin Sedlmayr acted as first reviewer. Prof. Diana Le Duc, head of the Institute of Clinical Genetics, served as second reviewer. The committee was further completed by Univ.-Prof. Dr. med. Martin Wagner (Clinic and Polyclinic for Visceral, Thoracic and Vascular Surgery / CeTI) as well as Prof. Dr. Reinhard Berner (Director of the Clinic and Polyclinic for Pediatrics and Adolescent Medicine).
We thank everyone involved and warmly congratulate Ms Ahmadi on her great success! 🎉
Here is the link to the LinkedIn post: https://bit.ly/4b8tuW5