Rare Disease Factory

OPEN CALL – The first round of nominations was closed on December 6, 2024. Open for next evaluation in June 2025!

RD-Factory Program Announces Open Call for Gene and Disease Nominations

The Czech Centre for Phenogenomics, in collaboration with the Institute of Molecular and Translational Medicine is excited to announce the RD-Factory Program. This initiative is dedicated to advancing the understanding and treatment of rare genetic diseases.

Since 2015, the Czech Centre for Phenogenomics (CCP) of the Institute of Molecular Genetics has been at the forefront of gene editing and the creation of mouse models to explore human diseases. With over 1,000 mouse models CCP has become a pivotal player in the discovery of gene functions and the preclinical testing of potential therapies. In parallel, the Institute of Molecular and Translational Medicine (IMTM) at Palacký University has been advancing drug and biomarker development, forwarding them to clinical trials and medical implementations.

The RD-Factory Program has been established to intensify these efforts, focusing on new models for rare genetic diseases and exploring innovative therapeutic strategies, especially in cell and gene therapies, along with novel and repurposed therapeutic compounds. By doing so, the program seeks to translate these advances into clinical settings, significantly impacting the rare disease landscape.

Open Call for Proposals: Nominate Your Gene or Disease

The RD-Factory Program invites proposals for preclinical studies aimed at rare human genetic diseases. This open call seeks contributions from the scientific community, rare disease experts, societies, and patient families to:

  • develop mouse models for disease understanding and therapeutic testing,
  • design and/or preclinical testing of therapies (gene therapy or other such as small molecule, biological, and cellular therapies),
  • evaluate emerging drugs and therapeutic strategies,
  • foster novel diagnostic approaches encompassing diagnostic, prognostic, and predictive biomarkers.

Application Process

Beginning October 1, 2024, the RD-Factory Program welcomes nominations year-round, without deadlines. Up to six proposals will be selected annually for complimentary support. Initial submissions, detailing the rare disease and relevant gene, can be forwarded via e-mail to ccp@phenogenomics.cz. The first round of nominations was closed on December 6, 2024. The next one is open and will be evaluated in June 2025.

Scientific Evaluation and Selection Criteria

Each proposal will undergo rigorous evaluation by CCP and IMTM experts to assess scientific merit, clinical need, technical feasibility, and translational potential. The selection will consider factors such as technical feasibility, cost, resource capacity, and patient impact.

SUBMIT NOMINATION

Join us in making strides against rare diseases and bring hope to affected populations worldwide.

Current activities

CCP: First RD in the program

To initiate the program, CCP has established research and development projects on the following rare diseases:

  • Netherton syndrome
  • Angelman syndrome
  • Prader-Willi syndrome
  • SPATA5 syndrome
  • Diamond-Blackfan anemia
  • Autosomal recessive congenital ichthyosis

Preclinical therapeutics development in CCP – objectives

  • to provide fully supported access to preclinical development accordance to legal regulators
  • GLP study

Currently running collaborative projectsin CCP

  • Preclinical safety study for Ctnnb1 foundation (Slovenia)
  • Proof of concept study for Bow foundation (USA)
  • Proof of concept study for Genteo (CZ)
  • Proof of concept study, & preclinical testing for Asgent (CZ)

IMTM: First RD in the program

  • Diamond-Blackfan anemia and other ribosomopathies
  • Cystic fibrosis
  • Hereditary and rare cancers

Preclinical and clinical diagnostic sand therapeutics development at the IMTM

  • To provide access to high-end research infrastructure, including genome sequencing, protemics, metabolomics, biobanking, bioinformatics, high-throughput screening technologies, animal imaging and animal models core facilities.
  • To provide clinical and preclinical regulatory expertise in development of diagnostics and therapeutics.
  • To perform specialized certified services required for the regulatory process (under ISO 17025, ISO 15189, good laboratory practice), etc.

Currently running collaborative projects at IMTM/EATRIS-CZ

  • CFTR (Cystic fibrosis transmembrane conductance regulator) modulators – development of cellular models of relevant disease mutations with unmet need, screening candidates for CFTR correctors/modulators.
  • Clinical development of fenretinide for cystic fibrosis patients (LaurentPharma)