Investigating a rare blood disorder linked to energy production in cells
Adenylate Kinase 2 Deficiency and the Failure of Myelopoiesis
This study is looking at a rare blood disease called Reticular Dysgenesis, which happens because of changes in a specific enzyme, and it aims to learn how these changes affect energy in blood cells to find new ways to help patients with this serious condition.
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-11060867 on NIH RePORTER |
What this research studies
This research focuses on a rare hematologic disease called Reticular Dysgenesis, which is caused by mutations in the Adenylate Kinase 2 (AK2) enzyme. The study aims to understand how these mutations affect energy production in blood cells, particularly how they lead to severe deficiencies in neutrophils and lymphocytes. By using advanced techniques like CRISPR to create models of this condition, researchers will analyze the metabolic changes in blood progenitor cells to identify potential therapeutic targets. The goal is to improve outcomes for patients who suffer from this life-threatening condition.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Reticular Dysgenesis or those with similar genetic mutations affecting blood cell production.
Not a fit: Patients with other forms of congenital neutropenia not related to AK2 deficiency may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that improve blood cell production and overall health for patients with Reticular Dysgenesis.
How similar studies have performed: While research on metabolic pathways in blood disorders is ongoing, this specific approach using CRISPR technology to model AK2 deficiency is relatively novel.
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.