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Discovering Novel Genetic Causes and Molecular Mechanisms of Atypical Hemolytic Uremic Syndrome

Award Number: R01DK126759
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: 08/15/2021
PERIOD OF PERFORMANCE END DATE: 07/31/2024

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Discovering Novel Genetic Causes and Molecular Mechanisms of Atypical Hemolytic Uremic Syndrome - Project Summary Atypical hemolytic uremic syndrome (aHUS, hemolytic anemia, thrombocytopenia and acute renal failure in the absence of Shiga-toxin producing E. coli infection) is an extremely severe disease, frequently of genetic origin. Many genetic mutations causing this disease have been found in genes encoding components of the complement cascade, but more recently we have identified mutations in the gene diacylglycerol kinase epsilon (DGKE), indicating that factors outside of the complement, possibly affecting the endothelium, are implicated in aHUS and may represent future therapeutic targets. Pathogenic genetic variants have been identified in about 50% of these cases, leaving the etiology of the other half undiscovered. In this project we propose to identify mutations in novel genes that cause aHUS in an extensive cohort of patients using next generation sequencing and to study how DGKE loss of-function affects the biology of the endothelium causing aHUS by using transgenic mouse models.


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: 2023 ( Subtotal = $231,750 )
2023	2023	THE UNIVERSITY OF IOWA	105 JESSUP HALL	IOWA CITY	IA	52242	JOHNSON	USA	Diabetes, Digestive, and Kidney Diseases Extramural Research	000	3	8/25/2023	NON-COMPETING CONTINUATION	$231,750
														Subtotal = $231,750

Issue Date FY: 2022 ( Subtotal = $231,750 )
2022	2022	UNIVERSITY OF IOWA, THE	105 JESSUP HALL	IOWA CITY	IA	52242	JOHNSON	USA	Diabetes, Digestive, and Kidney Diseases Extramural Research	001	2	8/4/2022	NON-COMPETING CONTINUATION	$231,750
2022	2021	UNIVERSITY OF IOWA, THE	105 JESSUP HALL	IOWA CITY	IA	52242	JOHNSON	USA	Diabetes, Digestive, and Kidney Diseases Extramural Research	000	1	12/2/2021	NEW	$0
														Subtotal = $231,750

Issue Date FY: 2021 ( Subtotal = $231,750 )
2021	2021	UNIVERSITY OF IOWA, THE	105 JESSUP HALL	IOWA CITY	IA	52242	JOHNSON	USA	Diabetes, Digestive, and Kidney Diseases Extramural Research	000	1	8/9/2021	NEW	$231,750
														Subtotal = $231,750

Grand Total All Awards = $695,250

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Discovering Novel Genetic Causes and Molecular Mechanisms of Atypical Hemolytic Uremic Syndrome

Award Number: R01DK126759

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: 08/15/2021

PERIOD OF PERFORMANCE END DATE: 07/31/2024

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