Call for Nomination of Genes or Diseases
The Czech Centre for Phenogenomics (CCP) is excited to announce the 3rd Call for Nomination of Genes or Diseases within the RD-Factory program, advancing research and therapy development for rare genetic disorders. This continuous call invites proposals from scientists, clinicians, patient groups, and affected families, aiming to develop innovative mouse models, design and conduct preclinical testing of therapies—including gene therapies, small molecules, biologics, and cell therapies—and foster the creation of novel diagnostic and prognostic biomarkers. Nominations, accepted via the CCP web form, are evaluated within three weeks, and unselected proposals will be reconsidered in workshops throughout 2026. In previous rounds, dozens of nominations led to the selection of rare diseases not intensively researched elsewhere, with CCP’s expertise driving their progress. This initiative is open until December 2026 and seeks to harness public and expert collaboration to improve understanding and treatment options for those affected by rare conditions.
Achievements and Commitment
In previous rounds, CCP received and reviewed nearly 90 nominations, selecting 24 for further research. Selections focused on diseases not intensively studied worldwide and where CCP’s unique expertise could facilitate significant advances. This program, run in partnership with the Institute of Molecular and Translational Medicine (IMTM), is designed to make meaningful progress in rare disease diagnostics, new therapies, and scientific understanding, driven by both expert input and public participation.
Here is an overview of the diseases selected in the first and second rounds:
| 1st round | 2nd round |
|---|---|
| CTNNB1 Syndrome | Developmental Epileptic Encephalopathy (DEE65) |
| MADD Deficiency | DEAF1 Syndrome – DEAF1 |
| Pitt Hopkins Syndrome | Ataxia Telangiectasia – ATM |
| Harlequin Ichthyosis | Familiar Mediterranean Fever (FMF) – MEFV |
| Canavan Disease | DEE PACS2 syndrome – PACS2 |
| Bloom Syndrome | AGO1-related syndrome |
| ADSL Deficiency | CFC Syndrome Type 4 – MAP2K2 |
| KCNH1-Related Developmental and Epileptic Encephalopathy | SATB2-associated syndrome (SAS) |
| Liang-Wang Syndrome (LIWAS) | ARSACS (Autosomal Recessive Spastic Ataxia) – SACS |
| CYFIP2 Developmental and Epileptic Encephalopathy | NBIA – C19orf12 (c.204_214del) MPAN |
| YWHAG Developmental and Epileptic Encephalopathy | CORD (Cone-Rod Dystrophy) – ABCA4 |
| Lessel-Kreienkamp Syndrome (Ago2) | KAT6A Syndrome (Arboleda-Tham) |
Purpose and Scope
RD-Factory seeks nominations for genes or diseases with the goal of:
- Supporting the creation of novel diagnostic, prognostic, and predictive biomarkers.
- Developing innovative mouse models that improve disease understanding and enable testing of new therapies.
- Designing and conducting preclinical testing of gene therapies, small molecules, biologics, and cellular treatments.
- Evaluating emerging drug candidates and therapeutic strategies.
Nomination and Evaluation Process
- The nomination call is open from October 15, 2025, through December 2026, with potential for extension.
- Proposals can be submitted through the CCP online form and will be evaluated in average within three weeks of registration, ensuring timely feedback.
- Nominations not selected initially will be reconsidered at re-evaluation workshops scheduled for July and December 2026, including previous submissions from earlier rounds, allowing new technological advances, capacities or partnerships to support promising projects.
Selection
The selection from nominated rare diseases had several aspects. We are generally selecting diseases that are currently not sufficiently researched and are not being intensively worked on elsewhere in the world. We also evaluated whether our expertise could advance knowledge about these diseases and whether the proposal is feasible from the point of view of our research capacity and funding.
Who Can Participate
CCP welcomes nominations from:
- Scientific researchers and rare disease clinicians.
- Patient organizations and advocacy groups.
- Families and individuals affected by rare genetic diseases.
How to Nominate
To submit a nomination, describe the rare disease and relevant gene details using the CCP’s web form (button ’submit nomination’ below). Instructions and selection criteria will be updated in late October 2025.
Join the CCP RD-Factory program’s ongoing effort to drive rare disease research—help us discover new therapies and diagnostics and improve the lives of patients and their families worldwide.