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Institute of Molecular Genetics of the Czech Academy of Sciences
Institute of Molecular Genetics of the Czech Academy of Sciences

The Future of Rare Disease Diagnostics and Research

  • Date & Time: 25. 2. 2026  |  17:00 - 19:00
  • Location: Czech Academy of Sciences, Lecture room 206, Národní 3, Prague

The Czech Centre for Phenogenomics (CCP), in cooperation with the Rare Diseases Czech Republic (RDCR), the National Centre for Medical Genomics, and other partners, cordially invites you on the occasion of Rare Disease Day to an expert meeting and discussion.

This event is intended for experts, students, representatives of patient organizations, and journalists. Come and discuss the latest trends in the diagnostics and research of rare diseases within the international RD-Factory program.

Registration

Admission is free, but capacity is limited – please register.

REGISTRATION

Speakers

Leading Czech experts will share their insights, including:

  • Prof. Stanislav Kmoch
  • Assoc. Prof. Marián Hajdúch
  • Assoc. Prof. Radislav Sedláček
  • Dr. Jan Procházka
  • Prof. Milan Macek
  • and representatives of RDCR

Discussion topics

  • From variant to diagnosis: what are the current possibilities for identifying the genetic causes of rare diseases? How does the CzechGenome project accelerate and improve the interpretation of genetic findings? Genetic diagnostics of rare diseases.
  • RD-Factory: from research on pathogenic variants to an international drug development program.
  • The path to treatment: how do we select genes and diseases for preclinical research?

For further information, please visit www.phenogenomics.cz.

We look forward to meeting you in person and sharing hope between science and patients.

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