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A Panel-Based Approach to the Diagnosis of Genetic Nephropathies Utilizing Next G

Award Number: R43DK103432
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: 09/24/2014
PERIOD OF PERFORMANCE END DATE: 08/31/2015

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A Panel-Based Approach to the Diagnosis of Genetic Nephropathies Utilizing Next G - DESCRIPTION (provided by applicant): There are currently mutations in over 200 genes that have been described to cause kidney disease. Current strategies for diagnosis of genetic kidney disease are extremely costly and time consuming. We aim to develop a comprehensive next generation sequencing panel that can simultaneously test for all currently described kidney- associated gene mutations at a low price within approximately 2 weeks. There are currently no comprehensive gene panels commercially available in the field of nephrology. We believe this assay will greatly decrease turnaround time and cost for the diagnosis of disease. Once the nephrology gene panel is developed, we will use it to describe genotypic-phenotypic correlations in a large cohort of patients with unexplained chronic kidney disease. We will isolate DNA from de-identified renal biopsy samples and use these samples for target enrichment, amplification and labeling of the exons of genes in our panel followed by sequencing on a MiSeq. We will work closely with DNAStar, makers of an industry-leading sequencing software package, in development of a software pipeline for the assay targeted towards clinical next generation sequencing. Upon completion and validation we will offer the test as a CLIA-certified assay for the diagnosis of hereditary kidney disease.


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: 2014 ( Subtotal = $143,382 )
2014	2014	NEPHROPATHOLOGY ASSOCIATES PLC	10810 EXECUTIVE CENTER DRIVE	LITTLE ROCK	AR	72211	PULASKI	USA	Diabetes, Digestive, and Kidney Diseases Extramural Research	000	1	9/24/2014	NEW	$143,382
														Subtotal = $143,382

Grand Total All Awards = $143,382

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A Panel-Based Approach to the Diagnosis of Genetic Nephropathies Utilizing Next G

Award Number: R43DK103432

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: 09/24/2014

PERIOD OF PERFORMANCE END DATE: 08/31/2015

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