We focus on what may help.
See our full-length example report showing the depth of our analysis.
Scientific services only.
We complement clinical care; we do not provide medical diagnosis or treatment.
Gene overview – molecular function, isoforms, tissue specificity, structure, regulatory mechanisms, associated disorders, etc.
Variant-specific context – what’s known about the variant of interest and other relevant variants; genotype–phenotype patterns.
Research evidence – key findings from human data, model systems, and cell-based studies.
Reported modulators – published factors reported to influence the gene product or its pathway.
Potential cautions – factors reported to suppress the gene product or interact with its biology.
Next-step research – proposed experiments to test the leading hypotheses (e.g., whether the gene product is reduced, mislocalized, functionally impaired). If the variant is a VUS (variant of uncertain significance), we outline potential assays that could help clarify whether it is likely disease-causing.
Clinical trials + labs – relevant trials/registries and research groups active in the field.
References + glossary – full bibliography and a plain-language glossary of relevant biological terms.
FOLLOW-UP VIDEO MEETING INCLUDED – ~60-minute online call to walk through the key conclusions and answer questions.
Functional data suggest the variant behaves like a reduced-function (loss-of-function–like) allele, while mouse models of other variants show phenotypes more severe than simple null alleles, underscoring the need for functional assays to distinguish “pure” loss-of-function from more complex mechanisms.
If reduced-function is confirmed, four FDA-approved drugs increased the gene product >2× in vitro, and improved muscle strength by ~20–25% in vivo.
Published clinical case report describes that a medication used in neurodegenerative diseases may help reduce motor impairments in some individuals.
A low-FODMAP dietary approach is reported to reduce seizure burden in an individual case report context.
Because dilated cardiomyopathy and immune system involvement have been reported in some affected individuals, cardiology monitoring and immunology follow-up are reasonable considerations to discuss with clinicians.
Some medications and bioactive compounds may interact with the gene’s biology/pathway, so cautious avoidance can be considered until safety in this context is better established.
This is academic-level work, not a quick summary.
Each LumiRare report is comparable to preparing a rigorous university literature-based thesis in molecular biology (you can think of it like a "MSc thesis") or, more accurately, the kind of evidence synthesis scientists produce when writing a review paper or a grant proposal. It is not something that can be done in a week, let alone in one evening.
We don’t outsource the thinking to AI.
We use modern tools to search for articles efficiently, but the core work is human scientific judgement. We read the papers we cite, verify key statements against the original sources, and build conclusions from the actual evidence.
We assess evidence quality, not just claims.
When it matters, we look beyond the article authors' interpretations and inspect the underlying data. We assess the strength of the evidence, considering both the authors’ conclusions and the supporting data, such as experimental design, controls and consistency of results.
We build a coherent mechanistic picture.
Rather than collecting facts, we place the gene and variant into the biological system they operate in, identify the most likely mechanism(s), and map which findings are strong, which are preliminary, and which are contradictory.
We focus on what could be realistically tested and advanced.
For proposed next research steps, we prioritise approaches that are sensible, feasible, and cost-aware. Not every case benefits from expensive or slow models as a first step; sometimes the best starting point is targeted functional readouts or cell-based assays that clarify mechanism before any larger investment.
You’re hiring active researchers in rare disease biology.
We work in research every day, publish, and think in the same framework used in academic and translational science; in our research work, we collaborate with multiple medical teams, including groups from Mayo Clinic (USA), University of Bonn (Germany), King Edward Memorial Hospital (Australia), and Medical University of Warsaw (Poland). The goal is to help you move from scattered information to a structured, evidence-based set of options that can be discussed with clinicians and, if relevant, researchers.
Send your genetic finding to contact@lumirare.com. We’ll reply with scope and pricing.
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