Mission

The Orphan Disease Center will develop transformative therapies using platform technologies that can be deployed across multiple rare diseases. We will emphasize disorders with substantial unmet need independent of their incidence and will strive to assure access to patients of all populations.


Impact

Each type of orphan disease affects such a small subset of the population, so the need for research and funding in this area is largely unmet. Our Center, the first of its kind, works closely with patient groups and foundations, pharma and biotech, and the academic community. We bring a unique set of programs to the table, enabling us to add value at any stage - from building the initial knowledge base to enabling therapeutic development. Through our grants, Programs of Excellence, International Patient Registries, Jump Start programs, and a number of new initiatives, the ODC seeks to drive therapeutic development for rare diseases. We help identify and fund the most promising therapeutics while also tackling obstacles present in rare disease drug development.


About Our Grantmaking

The ODC offers over 50 grant opportunities in 30+ disease areas annually to researchers across the globe, as well as within the Penn and CHOP community. Since 2011, our grant programs have funded $17.2 million in rare disease research.


See Available Grants Below:


The CSNK2A1 Foundation is pleased to announce the 2026 CSNK2A1 Pilot Grant Program, which will support one (1) investigator-initiated research project aimed at advancing the biological understanding of OCNDS and/or accelerating the discovery or development of therapeutic approaches.

This pilot grant is intended to generate high-impact preliminary data, support novel or underexplored approaches, and position investigators for future external funding.   

Background

Okur-Chung Neurodevelopmental Syndrome (OCNDS) is a rare autosomal dominant neurodevelopmental disorder caused by pathogenic variants in CSNK2A1, which encodes the alpha catalytic subunit of protein kinase CK2. CK2 is a ubiquitously expressed serine/threonine kinase with critical roles in neurodevelopment, cellular signaling, and synaptic function.

Individuals with OCNDS exhibit a broad and heterogeneous phenotype that may include global developmental delay, speech and motor impairments, hypotonia, intellectual disability, behavioral challenges, epilepsy, sleep disturbances, gastrointestinal issues, short stature, and other neurological features. To date, there are no disease-modifying treatments or cures for OCNDS, and clinical management remains supportive.

While substantial progress has been made in patient identification and natural history characterization, important gaps remain in our understanding of disease mechanisms, variant-specific effects, biomarkers, and therapeutic strategies. Addressing these gaps is essential for advancing clinical trial readiness and therapeutic development.

 

Research Priorities:

The RFA is intentionally focused. Proposed projects must be clearly relevant to OCNDS and CSNK2A1 biology and align with one or more of the priority areas below. Community input has identified speech and communication, intellectual disability, sleep disturbances, and anxiety as high-priority symptom domains, and proposals that help advance understanding or treatment of these areas are encouraged.

Priority will be given to projects that address:

1. Disease mechanisms and variant-level biology  Studies that improve understanding of how pathogenic CSNK2A1 variants alter CK2 function, signaling pathways, or cellular phenotypes.  This may include, but is not limited to:

  • Functional characterization of patient-observed variants, including missense variants, truncations, or deletions
  • Integration of genetic variation with clinical, functional, or molecular data to identify meaningful phenotype patterns or subgroups within OCNDS
  • Variant interpretation approaches, including computational modeling, structural biology,     phosphoproteomics, electrophysiology, or cellular assays
  • Use of patient-derived or engineered cellular or animal models

2. Biomarker discovery or validation  Identification or early validation of molecular, cellular, physiological, or digital biomarkers relevant to OCNDS disease activity, progression, or therapeutic response.  Biomarkers may be derived from:

  • Preclinical models
  • Patient-derived samples
  • Clinical or real-world data sources  Projects that support future clinical trial readiness are strongly encouraged.

3. Therapeutic approaches  Exploratory or proof-of-concept studies aimed at therapeutic development      for OCNDS, including:

  • Drug repurposing or small-molecule screening
  • Gene-based or RNA-based therapeutic strategies
  • Pathway-targeted interventions informed by CK2 biology  Projects should articulate a clear translational rationale.

Applicants are encouraged, but not required, to leverage existing community resources such as patient registries, natural history data, or available model systems; for the full list, please visit: https://www.csnk2a1foundation.org/research-toolbox

Award Amount and Duration:

  • One award of $50,000 total costs
  • Project duration: up to 12 months
  • Indirect costs are not permitted.

 

Eligibility 

  • Investigators holding a faculty-level appointment at an academic institution
  • Investigators in a senior position at a nonprofit research organization or foundation
  • International applicants are welcome
  • Early career investigators and postdoctoral fellows may apply, provided the application includes      documented institutional and mentor support.

 

Letter of Interest Instructions

All applicants must first submit a Letter of Interest (LOI) to be reviewed for consideration of a full application submission. Please visit our website to submit your LOI, which can also be found here.

Format for the 1‐page LOI:

  • Project title
  • Principal Investigator and institution
  • Overall goal of the project
  • Clear statement of relevance to OCNDS and this RFA
  • Brief background
  • Specific aims listed succinctly
  • High-level project timeline and requested budget

 

LOI Due Date: LOI document is to be uploaded no later than 8pm (ET) on APRIL 17 2026, via ONLINE FORM. Applicants will be notified via email with a decision regarding their LOI, which, if successful, will invite the applicant to submit a full application.

Please review RFA here before applying.

Orphan Disease Center