The Research Project "DECOD-LMBRD2"

DEciphering Cellular Outcomes and Defects in LMBRD2

We know the LMBRD2 gene is mutated. But we don't know exactly what this causes in our children's neurons. Why do certain neurons suffer? Which functions are disrupted? Without these answers, no targeted treatment is possible.

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Our Solution: Recreating the Disease in the Laboratory

Thanks to CRISPR and iPSC technologies (you may have heard of them—they're the "genetic scissors" and stem cells), we can now:

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1. Start with normal skin cells

2. Reprogram them into stem cells

3. Introduce LMBRD2 mutations with surgical precision

4. Transform these cells into neurons

5. Compare diseased and healthy neurons

What We Will Discover:

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• Is the mutated LMBRD2 protein in the right place in the cell?

• Is it produced in sufficient quantities?

• Which other proteins are affected?

• Do the neurons develop normally?

• How do they react to different molecules?

Why This Is Strategic

Rather than waiting months to establish a formal biobank (ethical approvals, logistics), our scientific partner Dr. Alban Ziegler can start immediately with this approach. The results will then be validated with real patient cells.

Budget: €15,000

• Creation of CRISPR cell lines

• Culture and differentiation into neurons

• Functional analyses

• Laboratory equipment and consumables