Updates from the 2024 CblG and Severe MTHFR research grant!
October 2025
Establishing MTHFR- and Cobalamin G-deficient cerebral organoids: an in vitro disease model for investigating novel therapies
Principal Investigator: Dr. Ferdinand von Meyenn; Special mention to PhD student, Beata Vekeriotaite
We created special stem cell lines where two genes (MTHFR and MTR) were turned off. To make sure these new cells were still healthy and useful, we ran several tests:
- Checking the genes worked as expected: We confirmed that the target proteins no longer functioned.
- Stem cell "health check": We tested markers that show whether the cells were still true stem cells, and they were.
- Ability to grow into other cell types: The cells could still develop into all three major types of tissues in the body (like normal stem cells do).
- Cleanliness check: We made sure the cells weren’t contaminated with bacteria that could mess up results.
- DNA check: We scanned their entire DNA to confirm there were no harmful accidental edits from the gene-editing process.
The modified stem cells are healthy, uncontaminated, and can still function like normal stem cells—just without the MTHFR or MTR genes.
This research has been shared at a variety of scientific conferences and funding has been secured to continue this research for another 2.5 years.