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Elucidating function of disease-related SAMD9L mutations in hematopoiesis

Award Number: R00DK135910
ORGANIZATION: NATIONAL INSTITUTE OF DIABETES & DIGESTIVE & KIDNEY DISEASES
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 06/01/2023
PERIOD OF PERFORMANCE END DATE: 01/31/2029

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Elucidating function of disease-related SAMD9L mutations in hematopoiesis - (PLEASE KEEP IN WORD, DO NOT PDF) Germline mutations in SAMD9L are a major cause of inherited bone marrow failure and pediatric myelodysplastic syndrome, frequently associated with poor clinical outcomes. Although these mutations are known to impair hematopoietic stem cell function, the cellular mechanisms linking genetic disruption to disease progression remain incompletely understood. This project aims to define the physiological role of SAMD9L in maintaining normal hematopoiesis and to determine how pathogenic variants compromise this process. Using patient-relevant human induced pluripotent stem cells and genetically engineered mice models, the proposed studies will investigate how dysregulated cellular stress responses, metabolic pathways, and inflammatory signaling contribute to stem cell dysfunction and disease evolution. The work integrates genetic, cellular, and functional approaches to establish mechanistic links between SAMD9L disruption and impaired blood formation. Expected outcomes include identification of key regulatory pathways that influence disease severity and therapeutic response. Successful completion of this project will advance understanding of inherited bone marrow failure syndromes, support the development of targeted intervention strategies, and establish a strong foundation for the investigator’s independent research program in translational hematology.


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 = $248,999 )
2026	2026	VIRGINIA POLYTECHNIC INSTITUTE & STATE UNIVERSITY	300 TURNER ST NW	BLACKSBURG	VA	24060	MONTGOMERY	USA	Diabetes, Digestive, and Kidney Diseases Extramural Research	000	3	2/19/2026	EXTENSION WITH OR WITHOUT FUNDS	$248,999
														Subtotal = $248,999

Grand Total All Awards = $248,999

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Elucidating function of disease-related SAMD9L mutations in hematopoiesis

Award Number: R00DK135910

ORGANIZATION: NATIONAL INSTITUTE OF DIABETES & DIGESTIVE & KIDNEY DISEASES

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 06/01/2023

PERIOD OF PERFORMANCE END DATE: 01/31/2029

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