Award

National Heart, Lung, and Blood Institute 5R01HL168659-04

Genetic and molecular basis of hematopoietic abnormalities in ZTTK syndrome

Recipient

University of Alabama at Birmingham

Award Amount

$508,794.00

Ceiling

$508,794.00

Awarded

February 11, 2026

Identifier

5R01HL168659-04

Research grant awarded to study hematopoietic abnormalities in ZTTK syndrome using mouse models to understand molecular mechanisms and develop therapeutic strategies.

Description

This project aims to examine hematopoietic abnormalities using mouse models, focusing on how SON haploinsufficiency affects hematopoietic stem and progenitor cells (HSPCs). Preliminary data suggest that SON haploinsufficiency alters chromatin modifier gene expression, skewing lineage bias and impairing HSPC function. The project investigates the functional output of HSCs and lineage-primed MPPs in vivo and dissects the molecular mechanisms by which SON haploinsufficiency leads to HSPC abnormalities.

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