FBXO28 Research Foundation · Set course for a cure
FBXO28-Related Developmental and Epileptic Encephalopathy (DEE100)
A foundation set up by the family of a child with DEE100. Our first goal is to find out what the faulty FBXO28 protein does in patients’ cells, because the choice of therapy depends on that answer.
The Foundation’s public fundraiser is live on pomagam.pl.
Foundation news
Ongoing · pomagam.pl
Public fundraiser on pomagam.pl
Stage 1, finding out what exactly the mutation breaks, costs about PLN 220,000. The goal for the whole road is PLN 5 million towards an ASO or gene therapy, depending on the disease mechanism.
Donate →
Member of the Rare Epilepsy Network
REN brings together patient organisations working on rare epilepsies. Most of them, like ours, were started by families around a single gene.
About REN →
Kanał Zero · YouTube
Kanał Zero on Klara and how the Foundation began
A report on the Polish YouTube channel Kanał Zero (in Polish). The link opens YouTube in a new tab.
Watch on YouTube →
Decision by 30 November
Grant application submitted
We have applied for funding of the mechanism studies on patient cells: transcriptomics, proteomics and neuronal phenotyping.
The research programme →
46
papers on FBXO28
Research library: everything published on FBXO28
Clinical reports and protein biology in one place. Know of a paper we are missing? Suggest it.
Open the library →
KRS
0001261586
The Foundation is registered
Entered in the National Court Register under KRS 0001261586. Supervising authority: Minister of Health.
Verify in the register →
Purpose of the Foundation
<20
people with a disease-causing FBXO28 variant reported worldwide
0
treatments that address the cause; care is symptomatic
1,370
people supported the fundraiser in its first seven days
The Foundation was registered in August 2026 by the family of one of those children, to do the part nobody else was going to do: secure patient-derived material, place it with laboratories able to work on it, and pay for the experiments that show what the variant actually breaks.
As of October 2026
Research programme status
The status of each part of the research programme.
Mechanism before modality.
- Patient-derived fibroblastsAvailable to collaborating laboratoriesSecured
- Patient-derived iPSC linesLines are being prepared from patient fibroblastsIn preparation
- Disease-specific neuronal modelsTo study disease mechanisms and future therapeutic approachesIn development
- Transcriptomics and proteomicsWhich pathways the variant disturbs · funding application submittedPlanned
- Drug repurposingA phenotypic screen to identify candidate compoundsNot started
Research network
Lidia Wróbel
Laboratory of Cellular Proteostasis, International Institute of Molecular and Cell Biology in Warsaw (IIMCB), Poland
Maria Roberta Cilio
Department of Pediatrics, Saint-Luc University Hospital, and Institute of Neuroscience (IoNS), UCLouvain, Brussels, Belgium
Evelina Carapancea
Institute of Neuroscience (IoNS), UCLouvain, Brussels, Belgium
AM
Andre van Marle
Academic and clinical collaborator
FBXO28 Research Foundation is a member of the Rare Epilepsy Network (REN). The full research network →
The FBXO28 Research Foundation was founded by Aleksandra Sułkowska-Bojarczyk, MD, first and foremost the mother of Klara. Although Klara’s diagnosis was the catalyst for this work, the Foundation was created for the entire global FBXO28 community.
Aleksandra Sułkowska-Bojarczyk, MD
Founder and President of the Board
Set course for a cure
The money goes to the research programme described on this site: the path towards a therapy for children with FBXO28.