Adenylate kinase 2 (AK2) and how it causes bone marrow failure in reticular dysgenesis
Adenylate Kinase 2 Deficiency and the Failure of Myelopoiesis
Researchers are using human blood stem cells and lab models to understand how missing AK2 leads to dangerously low white blood cells in people with reticular dysgenesis.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Stanford University NIH-funded |
| Lab location | 1 site (Stanford, United States) |
| Project ID | NIH-11304505 on NIH RePORTER |
What this research studies
Scientists recreate the AK2 defect in primary human hematopoietic stem and progenitor cells using CRISPR so the cells match those from reticular dysgenesis patients. They grow the edited cells in culture and transplant them into mice to observe how myelopoiesis (white blood cell development) fails. The team performs broad metabolomic profiling to find changes in energy metabolism and nucleotide recycling that result from AK2 loss. The findings are intended to point to metabolic problems that could become targets for future treatments.
Who could benefit from this research
Good fit: Ideal participants would be adults with confirmed AK2 deficiency or related blood disorders who can provide blood or bone marrow samples for research.
Not a fit: People without AK2 mutations or those seeking an immediate clinical treatment are unlikely to gain direct medical benefit from this laboratory-focused work.
Why it matters
Potential benefit: If successful, this work could reveal metabolic targets to help restore white blood cell production or guide new therapies for reticular dysgenesis.
How similar studies have performed: Previous laboratory and preclinical work has linked AK2 loss to bone marrow failure, but this human-cell CRISPR model combined with detailed metabolomics is a more direct and novel approach.
Where this research is happening
Stanford, United States
- Stanford University — Stanford, United States (Active)
Researchers
- Principal investigator: Weinacht, Katja Gabriele — Stanford University
- Study coordinator: Weinacht, Katja Gabriele
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.