Official websites use .gov

A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS

A lock ( 🔒 ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

Need Help

Concept-proof of treatment in a rodent model of thrombocytopenia-absent-radius (TAR) syndrome

Award Number: R21HD122002
ORGANIZATION: NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 08/14/2026
PERIOD OF PERFORMANCE END DATE: 07/31/2028

Group Awards By:

View Award Description

Concept-proof of treatment in a rodent model of thrombocytopenia-absent-radius (TAR) syndrome - Project Summary Thrombocytopenia-absent-radius (TAR) syndrome is a rare congenital birth defect impacting skeletal and blood development. The major symptoms of TAR syndrome are the lack of radii and a low platelet count. The haploinsufficiency in RBM8A gene has been firmly established as the cause of TAR. However, a pressing challenge in addressing TAR syndrome lies in the current lack of a pre-clinical animal model that recapitulates the bone defects observed in this disorder. This significant gap hinders the ability to conduct hypothesis-driven proof-of-concept testing for targeted interventions. Thus, there is a critical need to establish an animal model that accurately replicates the developmental phenotypes of TAR syndrome, allowing us to gain better understanding of the disease and design effective treatments. Our ultimate mission is to develop innovative strategies for prevention and treatment of structural disorders such as TAR syndrome. As an important step towards our goal, we have developed Rbm8a conditional knockout (cKO) mice and have revealed fascinating similar developmental defects as TAR. To bridge the mechanistic and translational gaps of our research, we have also finished a pilot chemical screen using RBM8A-GFP-KI hPSCs and identified multiple bioactive compounds that can increase RBM8A level, including FDA-approved drugs and probes suitable for in vivo use. With these new powerful cellular and chemical tools in hand, the overarching objectives of this application are to examine the role of RBM8A in platelet and radial development, and to test small molecule approaches for ameliorating thrombocytopenia and radial defects in disease models. To achieve our objectives, we will rigorously pursue two Specific Aims: 1) To determine syndrome specific cellular and molecular defects caused by RBM8A haploinsufficiency; and 2) Determine the efficacy of pharmacological strategies for alleviating TAR- associated defects in Rbm8a cKO mice. Upon the completion of this project, we expect that our correcting strategy holds the exciting promise of developing a new treatment for anomalies associated with TAR Syndrome. The proposed studies, if successful, would address the root cause of TAR syndrome and potentially significantly improve the lives of individuals affected by TAR syndrome.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2026 ( Subtotal = $427,134 )
2026	2026	THE PENNSYLVANIA STATE UNIVERSITY	201 OLD MAIN	UNIVERSITY PARK	PA	16802	CENTRE	USA	Child Health and Human Development Extramural Research	000	1	8/18/2026	NEW	$427,134
														Subtotal = $427,134

Grand Total All Awards = $427,134

Top

All Categories

About

Search

Reports

Data Submission

Award Information

Concept-proof of treatment in a rodent model of thrombocytopenia-absent-radius (TAR) syndrome

Award Number: R21HD122002

ORGANIZATION: NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

PERIOD OF PERFORMANCE START DATE: 08/14/2026

PERIOD OF PERFORMANCE END DATE: 07/31/2028

Federal Websites

Department of Health & Human Services

HHS Operating Divisions

HHS Staff Divisions

Download A Document Viewer