Comprehensive scientific analyses of rare diseases

Our scientific analyses combine advanced technology and global research expertise to support patients with rare diseases to improve their condition and search for effective therapies.

Why scientific analyses are particularly important for patients with rare diseases

Genetic diagnosis of rare mutations often ends up with limited information about the mutation itself, the function of the affected gene and its role in key cellular processes, which can make all the difference to the patient, who is often left without specific therapies and recommendations. Our mission is to strive to change this situation by building bridges between current scientific knowledge and practical medical care.

As scientists, we specialise in the expert analysis of rare mutations, providing state-of-the-art global knowledge, hypothesising about the mechanism of the disease, conducting bioinformatics research or putting patients in touch with scientists from around the world who are researching the gene in question.

About us

We are scientists and we study rare diseases on a daily basis

Wojciech Pokrzywa, Ph.D., D.Sc.

Since 2017, head of a research group (pokrzywalab.com) at one of the top research institutes in Poland
From 2009 to 2017, he did a postdoctoral fellowship at the University of Cologne, Germany; in 2009, he completed his Ph.D. at KU Leuven, Belgium
Author of more than 35 scientific publications in international journals, including articles on rare diseases
Recipient of numerous national and international research grants, including ones from the EMBO, German Research Foundation, National Science Centre, and the Foundation for Polish Science

Natalia Szulc, M.Sc.

4th year Ph.D. student in the group of Dr. Wojciech Pokrzywa
She received her M.Sc. in computational engineering from the University of Warsaw in 2021 and her M.Sc. in molecular biotechnology from the University of Warsaw in 2018
Author of more than 10 scientific publications in international journals, including articles on rare diseases
Head of the PRELUDIUM research grant;

Recipient of a Fulbright Junior Research Award for a research stay at Harvard; winner of the 2021 competition for the best master's thesis in bioinformatics in Poland.

Dr. Wojciech Pokrzywa, together with Natalia Szulc, and other members of the research group, received the 2024 Prize of the Minister of Science and Higher Education for scientific achievements, including research on a rare mutation in the FEM1C gene (see media news here).

Our analyses have a real impact
on patients' lives

Thanks to LumiRare's cross-sectional analyses and scientific hypotheses, as well as their contacts with scientists from all over the world, patients and their doctors have a personalised insight into the molecular mechanism of the disease and the chance to effectively seek treatment.

Thanks to LumiRare, our family finally has hope for effective therapy

Anna & Michał S.

Parents of Sophie

We ordered the report, unsure of what to expect. Last week, we received an 80+ page analysis (with bibliography) that turned out to be more than just a collection of information available on the web regarding our son's gene mutation (and such data is scarce). It was a compilation of material that we, as parents, did not have access to, as well as conclusions and suggestions for potential treatment, available medications and even dietary recommendations.

After reviewing the report, we had the opportunity to discuss it during a nearly two-hour video conference. This meeting was not limited to summarising the most difficult issues, but turned into an inspiring discussion to further the search for an effective form of treatment for our Jakub.

We wholeheartedly recommend cooperation with LumiRare!

Ewelina Z.
Mother of Jakub
Our case is unique in that genetic testing did not clearly indicate which gene was responsible for my daughter's disease, with the ASPM gene being the only sticking point. However, thanks to information from LumiRare derived from scientific publications describing studies in mice, our doctor suggested an ultrasound of the reproductive system, which allowed us to rule out ASPM as the cause. I am grateful to LumiRare for this crucial information, which helped us with the diagnosis.

Kinga S.
Mother of Antonine with undiagnosed microcephaly
The collaboration with LumiRare allowed us to identify in cellular mechanisms that can mitigate the effects of mutations in genes related to glycosylation, so we are now conducting collections to fund research.

Anna G.
On behalf of the support group for parents and carers of people with protein glycosylation disorders (CDG GPI)

Our services

At LumiRare, we offer a wide range of scientific services.

We would like to invite you to take a look at our offer.

Analysis of the global scientific literature for a particular gene

We create precise scientific reports that provide up-to-date information from the world's scientific literature on a specific gene in the context of the mutation identified in the patient and its potential impact on disease. In the case of a mutation of unknown pathogenicity, we use advanced artificial intelligence tools to predict its consequences. We also offer an analysis of the feasibility of testing a given mutation in animal models, such as the nematode C. elegans or mice. On this basis, we formulate hypotheses and propose preliminary experiments that can elucidate the molecular mechanisms of the mutation and thus enable the diagnosis or development of potential therapies. We also prepare a list of scientific laboratories that have conducted research on the gene in question in the last 5 years and check if and to what extent clinical trials are being conducted.

Individual pricing depending on the number of scientific publications available on the gene in question. As part of our holistic approach and commitment to genuinely helping you, we hold an online meeting after the completion of the report to explain the main findings.

We would like to emphasise that our analyses are tailored to the individual needs of the patient, we put maximum effort into them and they are the result of demanding intellectual work, which may result in a longer waiting time for the report.

Correspondence with scientists on personalised research

At LumiRare, we connect patients with the world's leading scientific laboratories and biotechnology companies. We conduct substantive correspondence in English on behalf of patients, ensuring that the exchange of information is clear, understandable and at a high scientific level, allowing us to effectively explore new therapeutic options.

Individual pricing.
We recommend prior use of LumiRare's global scientific literature analysis service, which will allow us to familiarise ourselves in detail with the current publications on a particular gene and mutation, which is crucial for maintaining a professional level of correspondence.

Personalised alerts on new discoveries and scientific findings

We offer monthly alerts that provide information from the scientific publications of the month on a selected gene. We carefully select and present only relevant data so that it is meaningful to our patients, providing them with access to up-to-date research and discoveries that may affect their treatment and understanding of their own health situation.

$25 per month.
Minimum subscription period:
3 months

To ensure the highest quality of our monthly newsletter, it is required that the client has used LumiRare's global scientific literature analysis service within the last 12 months. This will allow us to take an in-depth look at publications relating to the specific gene and mutation, which is essential to create a reliable and factual compilation of information.

Review of a selected scientific publication

We can carefully analyse and explain the scientific publication indicated by the client and then present its key points and conclusions during a dedicated 1-2 hour online meeting combined with an accompanying multimedia presentation.

Individual pricing depending on the topic and length of the scientific publication.

Individual scientific bioinformatics research

We also offer personalised bioinformatics research that includes advanced molecular dynamics simulations, molecular docking, evolutionary or other studies. These innovative methods enable us to accurately model and predict interactions between proteins and potential drugs or other molecules. Our services are particularly valuable in cases where standard therapeutic approaches are insufficient, opening up new avenues for understanding the molecular mechanisms of disease and developing more effective treatment strategies.

Individual pricing.
In order to effectively formulate hypotheses and plan further bioinformatics studies that make the most sense from the patient's point of view, it is necessary to first use our global scientific literature analysis service. This allows us to have a deep understanding of the specifics of the case, which is fundamental for planning reliable and substantive research.

We would like to mention that if new results are obtained from the study, we will aim to publish them in an international peer-reviewed journal.

We would like to inform you that our services are of a purely scientific nature and do not constitute a therapeutic or diagnostic activity, in particular a health service, medical, therapeutic or diagnostic advice, etc., nor do they constitute a medical experiment.

We do not consult or commission diagnostic tests.

Frequently Asked Questions

What added value will I receive from the analysis of the global scientific literature?

By choosing our scientific analysis, you will gain a fresh perspective with insights that may not be immediately obvious. We dive deep into the latest research, uncovering novel scientific approaches that could be critical for the patient’s care.

Our analysis does not just summarize existing knowledge; it provides actionable suggestions and connects you with leading researchers and potential therapeutic options. This approach ensures that you are up-to-date with the most relevant scientific developments, giving you the best chance to explore all possible avenues for personalized patient’s care and treatment.

Can I see one of your global scientific literature analyses?

Sure, you can view an excerpt from a report on a rare potassium channel mutation here.

How much does the scientific literature analysis cost and how long does it take?

We approach every case individually, tailoring our efforts to the specific complexities involved. The cost of the analysis starts from $1000 and depends on the number of relevant publications and data related to the gene in question.

Due to the thoroughness required, the time needed to prepare the analysis can vary. Typically, it may take up to two months, depending on the volume of publications and our current commitments.

What should I do to get an offer on the scientific literature analysis?

Please follow these steps:

Read Information Clause.
Download and complete the Consent Form to provide your health data, then return it via email at contact@lumirare.com along with the genetic test results (e.g., WES).
If the health data includes other adults (e.g., in WES Trio/Quattro), they must also personally submit their completed Consent Forms from their own email inboxes.

Submitting the Consent Form does not create a binding contract. Preparing the offer is free of charge.

What should I do if I'm having trouble understanding the conclusions of the scientific analysis?

After completing the report, we arrange a dedicated online meeting or phone call to explain the main conclusions. You will have time to review the report beforehand and prepare any additional questions.

I want to seek help in the academic world, can you help with that?

Absolutely! We have a vast network of scientists worldwide and prepare our reports in English to ensure that MDs and researchers can easily understand our findings.

Do you issue invoices?

Yes, we do issue invoices for all our services.

Take a step towards personalized medicine for rare diseases
with LumiRare

contact@lumirare.com

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contact@lumirare.com

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