Deep scientific analysis
of rare disease genes

From trial-and-error to a pathway-informed approach
We came to LumiRare with a genetic finding in our daughter and almost no usable information about it. LumiRare helped us move from trial-and-error to a pathway-informed approach by mapping the variant to the biological pathways it affects and highlighting an anti-epileptic drug mechanism that could modulate the gene’s function, supported by the literature.

We discussed the findings with our daughter's physician, and after a medically supervised change, we observed a clear improvement. For the first time, the data formed a coherent picture that allowed us to move forward with confidence.

Evidence that helped us connect with mitochondrial specialists in Paris
Our son carries an undescribed variant linked to a mitochondrial disorder. LumiRare combined computational predictions with mitochondrial complex activity measurements from an external laboratory and identified a likely metabolic vulnerability. With this evidence and the supporting literature, LumiRare connected us with mitochondrial disease clinicians in Paris.

Under their medical supervision, we began a methionine-based supplementation protocol. For the first time in our journey, the data came together into a coherent picture with clear next steps.

From community questions to PIGV-focused research

Working with LumiRare gave our community a shared, science-based understanding of the cellular mechanisms described in the literature on glycosylation-related genes, including our PIGV. This common framework helped us align our initiatives and fundraising around research priorities grounded in biology – not assumptions. Importantly, it also helped us identify concrete, testable therapeutic directions, and this work has now started within a research programme at the IIMCB in Warsaw.

LumiRare helped us speak the language of science together and turn it into action.

From an 80+ page report to a specialist consultation in Tübingen

We ordered the report unsure what to expect. What we received was an 80+ page analysis grounded in peer-reviewed literature, far beyond what we could have assembled on our own. LumiRare connected fragmented data into a coherent biological picture around our gain-of-function variant in a potassium channel.

Furthermore, LumiRare connected us with clinicians at the University Hospital in Tübingen – pioneers in the care of channelopathy-related epilepsies. A follow-up video consultation with LumiRare's scientists helped us better understand the most realistic paths forward.