Deep scientific analysis
of rare disease genes

You’re hiring active scientists in rare-disease biology. LumiRare is led by Prof. Wojciech Pokrzywa, PhD, Habil., Head of the Laboratory of Protein Metabolism at International Institute of Molecular and Cell Biology in Warsaw, and co-led by Natalia Szulc, a researcher with expertise in bioinformatics, computational modelling, and machine learning for rare-disease research.

That matters because your gene analysis report is handled as academic-level work, not a quick summary: a rigorous, traceable evidence synthesis – closer to what scientists prepare for a review paper or grant proposal. We stay close to primary data, weigh the strength and limits of each study, and build a coherent, clinically usable picture rather than a generic gene description.

In parallel, our day-to-day research collaborations with medical teams, including groups from Mayo Clinic USA), University of Bonn (Germany), King Edward Memorial Hospital (Australia), and Medical University of Warsaw (Poland), keep our work grounded in real clinical questions and research realities.

You’ll get a structured, evidence-based roadmap you can actually use – either to help you have a focused discussion with your clinicians or as a starting point for follow-up scientific research. Alongside a clear gene overview (function, isoforms, tissue specificity, structure, regulation, and known disorders) and variant-specific context (what’s known about your exact variant and related ones, plus genotype–phenotype patterns), we synthesize the strongest research evidence across human data, model systems, and cell-based studies.

Importantly, our primary focus is identifying reported modulators – published factors that influence the gene product or its pathway – because these are often the most actionable leads for clinicians and researchers. We also flag potential cautions (e.g. factors reported to suppress the gene product or interfere with its biology), propose next-step experiments that could test the leading hypotheses (e.g. to verify VUS pathogenicity or start developing therapeutic options), and point you to relevant clinical trials, registries, and active labs or companies.

Everything is delivered with a full reference list and a plain-language glossary so the report is both rigorous and usable.

A LumiRare gene analysis report is academic-level work, not a quick summary. It’s comparable to the rigorous evidence synthesis scientists produce when writing a review paper or a grant proposal.

Most reports take a few weeks, because the work involves reading broadly, cross-checking primary sources and databases, and building a coherent, evidence-based interpretation, not just “writing.” Timeline and pricing depend mainly on two factors: how extensive the scientific literature is for the gene in question, and how complex the case is (e.g., single genetic finding multiple).

Pricing starts from €1,000 per one gene, and the full analysis can take up to 2-3 months depending on publication volume and our current commitments. Payment is required in advance.

 Large language models (LLMs) are useful for summarizing publicly available information and brainstorming ideas. However, they typically rely on a limited subset of readily accessible sources, may overlook important publications, and often reproduce conclusions already presented by the original authors rather than critically evaluating the underlying evidence.

At LumiRare, we first identify and analyze the primary literature ourselves. We then compare findings across studies, assess which observations are truly relevant to the specific patient, identify gaps and inconsistencies in the evidence, and distinguish well-supported conclusions from hypotheses and speculation.

The main value of a LumiRare report is therefore not simply collecting information, but proposing scientifically grounded next steps. Depending on the case, this may include alternative therapeutic strategies, disease mechanisms worth investigating, compensatory pathways, suitable experimental models, priorities for future studies, and experiments that can indirectly support or refute competing hypotheses.

In many ways, our reports resemble the scientific reasoning behind a research grant proposal. While AI can help draft text, the quality of a research strategy depends on asking the right questions, selecting informative experiments, understanding the strengths and limitations of different approaches, prioritizing the evidence, and anticipating which results will meaningfully guide the next decisions. That analytical and strategic layer is the core of every LumiRare report.

We’re always open to collaborating with clinicians on cases that may benefit from deeper scientific follow-up. Our day-to-day work is based at the International Institute of Molecular and Cell Biology in Warsaw (IIMCB), and in our research we collaborate with medical teams including groups from Mayo Clinic (USA), University of Bonn (Germany), King Edward Memorial Hospital (Australia), and Medical University of Warsaw (Poland). 

We can’t promise that a specific genetic finding will be taken up for research, but we’re happy to review it and assess whether it aligns with research interests in Prof. Wojciech Pokrzywa’s (LumiRare Founder) group or other teams within the IIMCB where we work. If there’s a genuine scientific fit and capacity, we may be able to pursue it as an academic research direction; if not, we will be transparent that it isn’t something we or our institute can take on. Please email us at contact@lumirare.com.

To start, we first need your genetic finding exactly as it appears on your test results (for example: the gene and variant, a deletion/duplication, or another chromosomal finding). Please also include how the lab classified it (pathogenic, likely pathogenic, VUS, etc.), your current diagnosis (if any), and who is affected (child or adult) along with your relation (parent/guardian/patient). You can send this to contact@lumirare.com. Inquiry is free.

At this stage, you don’t need to share any medical history. Once we receive your message, we assess whether we’re the right fit and reply with a proposed pricing and turnaround time.

If you don’t have genetic results yet, reach out once testing is complete – symptoms alone aren’t enough for a reliable scientific analysis.

Yes. When a result comes back as a VUS, we start by mapping what’s already known, also about other relevant variants in the same gene. Even variants that look distant in the sequence can cluster in the similar region of the folded protein in 3D and affect the same function, such as an interaction interface, stability, or regulation. This kind of careful evidence mapping helps narrow down the most plausible mechanisms.

From there, we propose practical, cost-effective next steps that could realistically reduce uncertainty about the impact of the variant. We prioritise approaches that are sensible, feasible, and cost-aware. Not every case benefits from expensive or slow disease models as a first step; often the best starting point is targeted functional readouts or cell-based assays that shed some light on the mechanism before any larger investment.

Yes. If you want support navigating the academic research landscape, we can help in two ways: we can identify relevant labs already working on your gene or condition and reach out on your behalf, and, if your family is privately funding research, we can act as a dedicated scientific lead to design a research plan, coordinate external labs or companies to run experiments, and integrate results to help you set clear next steps.

To get started, email us at contact@lumirare.com with a short note on what kind of help you’re looking for.

Yes. Our reports can provide a strong scientific foundation for grant applications by combining a comprehensive review of the literature on the relevant gene, variant, and disease with case-specific research hypotheses, experimental strategies, and prioritized future directions. Rather than simply summarizing what is known, we aim to identify the most promising paths for advancing research.

We can also assist with preparing grant applications as a separate service. Writing a competitive proposal requires much more than adapting an existing report – it involves tailoring the project to a specific funding call, defining objectives, work packages, timelines, budgets, and collaborators. If you are considering this option, we recommend contacting us well before the application deadline, as developing a strong proposal is a collaborative process that typically takes several weeks.

Yes, we issue invoices for all our services.