In the second half of 2024, the Czech Centre for Phenogenomics (CCP) launched the Call for Nomination of Genes or Diseases within the RD-Factory program to advance research and therapy development for rare genetic disorders.
This continuous call invites proposals from scientists, clinicians, patient groups, and affected families. The program aims to develop innovative mouse models, design and conduct preclinical testing of therapies, including gene therapies, small molecules, biologics, and cell-based therapies, and foster the development of novel diagnostic and prognostic biomarkers.
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 therapeutic candidates and novel treatment strategies.
Nomination and Evaluation Process
- The nomination call is open until December 2026, with potential for extension.
- Proposals can be submitted through the CCP online form and will typically be evaluated within four weeks of submission.
- 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
Several criteria are considered during the selection process. Priority is given to diseases that remain under-researched globally and are not the focus of intensive research efforts elsewhere. We also assess whether CCP’s expertise and infrastructure can significantly advance knowledge of the disease and whether the proposed project is feasible within available research capacities and funding resources.
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 or gene and provide relevant genetic and clinical information using the CCP’s web form (button ’submit nomination eng / odeslat nominaci cz’ below).
Achievements and Commitment
To date, CCP has received and reviewed more than 120 nominations and selected 32 projects addressing diseases that are not currently the focus of intensive research elsewhere, where CCP’s unique expertise can drive meaningful progress. The initiative remains open until December 2026 and aims to harness collaboration between researchers, clinicians, patients, and the wider public to advance the understanding, diagnosis, and treatment of rare diseases.
Implemented in partnership with the Institute of Molecular and Translational Medicine (IMTM), the program is designed to accelerate the development of new diagnostic approaches and therapies while expanding scientific knowledge of rare genetic disorders through both expert input and public participation.
The following overview presents the diseases selected to date:
| 1st round | 2nd round | 3rd round |
|---|---|---|
| Adenylosuccinate Lyase (ADSL) Deficiency | ABCA4-related Cone-Rod Dystrophy | Adult Refsum Disease (PHYH) |
| Bloom Syndrome | AGO1-related Neurodevelopmental Disorder | DHX30-related Neurodevelopmental Disorder (NEDMIAL) |
| Canavan Disease | Ataxia Telangiectasia (ATM) | GRIN2B-related Neurodevelopmental Disorder |
| CTNNB1 Neurodevelopmental Disorder | Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) | Myofibrillar Myopathy Type 6 (BAG3) |
| Developmental and Epileptic Encephalopathy 65 (CYFIP2) | Cardiofaciocutaneous Syndrome Type 4 (MAP2K2) | Myofibrillar Myopathy Type 13 with Rimmed Vacuoles (HSPB8) |
| Harlequin Ichthyosis | DEAF1-related Neurodevelopmental Disorder | NOTCH1-related Tetralogy of Fallot |
| KCNH1-related Neurodevelopmental and Epileptic Disorder | Familiar Mediterranean Fever (FMF) | Putative RRAGB-related Disorder |
| Lessel-Kreienkamp Syndrome (AGO2) | KAT6A Syndrome (Arboleda-Tham Syndrome) | SPATA5-related Neurodevelopmental Disorder |
| Liang-Wang Syndrome (LIWAS) | Long-chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency | TBA |
| MADD Deficiency (MAP kinase-activating death domain protein) | Mitochondrial Membrane Protein-Associated Neurodegeneration (C19orf12) | TBA |
| Pitt Hopkins Syndrome | PACS2-related Developmental and Epileptic Encephalopathy 66 | TBA |
| YWHAG-related Developmental and Epileptic Encephalopathy 56 | SATB2-associated Syndrome | TBA |