Evidence synthesis to support variant review and research follow-up decisions.
Active rare-disease researchers • Clinical collaborations: Mayo Clinic • University of Bonn • King Edward Memorial Hospital • Medical University of Warsaw
Gene analysis report (paid service)
We deliver a structured, fully referenced scientific synthesis that maps the identified genetic finding(s) to molecular pathways and mechanism, then connects the most relevant evidence across human data, model organisms, and cell-based studies.
Our key focus is reported modulators – published factors (including drugs and other interventions) shown to influence the analysed gene product or its pathway, alongside potential cautions and interactions that may matter for the its biology.
We also outline a concise set of testable scientific hypotheses and feasible readouts to help validate mechanism and prioritize next research steps (including cases involving a VUS). A follow-up video call is included to walk you through the key findings and answer your questions.
Institutional invoicing supported.
Research collaboration
If a case appears truly research-ready, we may consider scientific follow-up within Wojciech Pokrzywa’s laboratory (LumiRare Founder) or other groups at our home institute, the International Institute of Molecular and Cell Biology in Warsaw (IIMCB).
By “research-ready,” we mean findings that suggest new biology to uncover – e.g., a candidate gene not yet convincingly linked to disease, an unpublished variant, an unexpected genotype–phenotype pattern, or an unclear molecular mechanism.
We are happy to take an initial look and share whether the case seems suitable for potential research interest within IIMCB. We cannot promise any case will be taken up; this depends on feasibility, scientific fit, staffing capacity and available funding.
Subject to research fit and feasibility.
STEP 1
Share the genetic finding
Send the genetic finding to contact@lumirare.com.
Inquiry is free.
STEP 2
We review fit & scope
We confirm whether the case falls within the scope of our analysis and inform you about the time of completion and pricing.
STEP 3
Proceed via remote agreement
If you choose to proceed, we formalize everything via an online agreement – fully remote.
Genetic finding(s) (SNV/indel, CNV, chromosomal finding, etc.)
Lab classification (pathogenic / likely pathogenic / VUS / etc.)
Patient context (age range + key symptoms)
FOLLOW FOR RARE DISEASE
RESEARCH UPDATES