Interim Results of the 3rd Call for Nomination of Genes or Diseases within the RD-Factory program
The Czech Centre for Phenogenomics (CCP) is excited to announce the interim results of 3rd Call for Nomination of Genes or Diseases within the RD-Factory program.
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,
- evaluate emerging drugs and therapeutic strategies,
- foster the creation of novel diagnostic and prognostic biomarkers.
List of selected diseases from the third round of nomination:
- GRIN2B-related Neurodevelopmental Disorder
- Refsum disease (PHYH mutation)
- Drug resistant epilepsy (RRAGB mutation)
- Neurodevelopmental Disorder with severe Motor Impairment and Absent Language syndrome (DHX30 mutation)
- Tetrallogy of Fallot
- Myofibrillar Myopathy Type 13 with Rimmed Vacuoles syndrome
The call 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.
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.
Here is an overview of the diseases selected in the first, second and third round:
| 1st round | 2nd round | 3rd round |
| CTNNB1 Syndrome | Developmental Epileptic Encephalopathy (DEE65) | GRIN2B-related Neurodevelopmental Disorder |
| MADD Deficiency | DEAF1 Syndrome – DEAF1 | Refsum disease (PHYH mutation) |
| Pitt Hopkins Syndrome | Ataxia Telangiectasia – ATM | Drug resistant epilepsy (RRAGB mutation) |
| Harlequin Ichthyosis | Familiar Mediterranean Fever (FMF) – MEFV | Neurodevelopmental Disorder with severe Motor Impairment and Absent Language syndrome (DHX30 mutation) |
| Canavan Disease | DEE PACS2 syndrome – PACS2 | Tetrallogy of Fallot |
| Bloom Syndrome | AGO1-related syndrome | Myofibrillar Myopathy Type 13 with Rimmed Vacuoles syndrome |
| ADSL Deficiency | CFC Syndrome Type 4 – MAP2K2 | TBA |
| KCNH1-Related Developmental and Epileptic Encephalopathy | SATB2-associated syndrome (SAS) | TBA |
| Liang-Wang Syndrome (LIWAS) | ARSACS (Autosomal Recessive Spastic Ataxia) – SACS | TBA |
| CYFIP2 Developmental and Epileptic Encephalopathy | NBIA – C19orf12 (c.204_214del) MPAN | TBA |
| YWHAG Developmental and Epileptic Encephalopathy | CORD (Cone-Rod Dystrophy) – ABCA4 | TBA |
| Lessel-Kreienkamp Syndrome (Ago2) | KAT6A Syndrome (Arboleda-Tham) | TBA |