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Novel Genetic Models for Vertebral Abnormalities

Award Number: K01OD027051
ORGANIZATION: OFFICE OF THE DIRECTOR, NIH
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: TRAINING/TRAINEESHIP
PERIOD OF PERFORMANCE START DATE: 02/01/2019
PERIOD OF PERFORMANCE END DATE: 11/30/2025

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Novel Genetic Models for Vertebral Abnormalities - Project Summary/Abstract This proposal describes a five-year training program for Dr. Kari Ekenstedt, a veterinarian and researcher in Comparative Medical Genetics at Purdue University. Her research uses the dog as a model to ascertain susceptibility genes for spinal abnormalities. She already has identified causal mutations for rare spinal disorders in “short spine” dogs (i.e., spondylocostal dysostosis) and is now investigating the much more common phenotype of idiopathic scoliosis. Dr. Ekenstedt's co- primary mentors are Dr. Cathy Carlson at the University of Minnesota (UMN) (Professor and Department Chair, veterinarian, board certified pathologist, and NIH-funded researcher) and Dr. Gert Breur (Professor and director of Purdue's Center for Comparative Translational Research). Both co-primary mentors have extensive experience in musculoskeletal system research, pediatric orthopedic diseases, and skeletal development. Dr. Ekenstedt's other two mentors, Dr. Molly McCue at UMN and Dr. Peristera Paschou at Purdue, together have extensive mammalian genetics and genomics experience. This team will provide high caliber mentoring to enable Dr. Ekenstedt to become a productive, independent research professor. The K01 project will allow Dr. Ekenstedt to learn techniques that will enhance her future research potential, provide new directions to pursue in scoliosis research, and will result in multiple important publications. Dr. Ekenstedt will also train in grant writing and utilize these skills to procure independent funding. Idiopathic Scoliosis (IS) is a significant health problem affecting up to 3% of children globally. Very little is known about the pathophysiology of IS, and although there is a substantial inherited component to IS, susceptibility genes have largely evaded identification. Furthermore, the majority of animal models for scoliosis research are induced. Dogs, however, offer a naturally- occurring model of IS that has not yet been explored genetically and is not yet well-recognized as a natural IS model. The proposed project will study the genomes of dogs with multiple spinal abnormalities. The first objective is to investigate, via genome-wide association study, Pugs with thoracic hemivertebrae and, separately, Pugs with arachnoid fibrosis. The second objective is to investigate, via selective sweep analysis, Pugs, Basenjis, Bulldogs, and French Bulldogs for the fixed trait of “screw-tail”, or wedge-shaped caudal (coccygeal) vertebrae. The third and final objective is to identify putative functional alleles for each of these abnormalities via whole- genome sequencing. By providing insight into the genetics of canine scoliosis conditions, this project will highlight genes for investigation of this disease in humans. The establishment of the genetic canine scoliosis model has great potential to lead to future therapeutic intervention trials.


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: 2025 ( Subtotal = $0 )
2025	2023	PURDUE UNIVERSITY	2550 NORTHWESTERN AVE # 1100	WEST LAFAYETTE	IN	47906	TIPPECANOE	USA	Research Infrastructure Programs	000	5	11/26/2024	NON-COMPETING CONTINUATION	$0
														Subtotal = $0

Issue Date FY: 2023 ( Subtotal = $125,361 )
2023	2023	PURDUE UNIVERSITY	2550 NORTHWESTERN AVE STE 1900	WEST LAFAYETTE	IN	47906	TIPPECANOE	USA	Research Infrastructure Programs	000	5	11/30/2022	NON-COMPETING CONTINUATION	$125,361
														Subtotal = $125,361

Issue Date FY: 2022 ( Subtotal = $125,361 )
2022	2022	PURDUE UNIVERSITY	155 S GRANT ST	WEST LAFAYETTE	IN	47907	TIPPECANOE	USA	Research Infrastructure Programs	000	4	11/19/2021	NON-COMPETING CONTINUATION	$112,825
2022	2022	PURDUE UNIVERSITY	2550 NORTHWESTERN AVE STE 1900	WEST LAFAYETTE	IN	47906	TIPPECANOE	USA	Research Infrastructure Programs	001	4	5/17/2022	NON-COMPETING CONTINUATION	$12,536
														Subtotal = $125,361

Issue Date FY: 2021 ( Subtotal = $125,361 )
2021	2021	PURDUE UNIVERSITY	155 S GRANT ST	WEST LAFAYETTE	IN	47907	TIPPECANOE	USA	Research Infrastructure Programs	000	3	11/12/2020	NON-COMPETING CONTINUATION	$112,825
2021	2021	PURDUE UNIVERSITY	155 S GRANT ST	WEST LAFAYETTE	IN	47907	TIPPECANOE	USA	Research Infrastructure Programs	001	3	3/12/2021	NON-COMPETING CONTINUATION	$12,536
														Subtotal = $125,361

Issue Date FY: 2020 ( Subtotal = $125,361 )
2020	2020	PURDUE UNIVERSITY	155 S GRANT ST	WEST LAFAYETTE	IN	47907	TIPPECANOE	USA	Research Infrastructure Programs	001	2	3/5/2020	NON-COMPETING CONTINUATION	$12,536
2020	2020	PURDUE UNIVERSITY	155 S GRANT ST	WEST LAFAYETTE	IN	47907	TIPPECANOE	USA	Research Infrastructure Programs	000	2	11/30/2019	NON-COMPETING CONTINUATION	$112,825
														Subtotal = $125,361

Issue Date FY: 2019 ( Subtotal = $125,361 )
2019	2019	PURDUE UNIVERSITY	401 SOUTH GRANT ST	WEST LAFAYETTE	IN	47907	TIPPECANOE	USA	Research Infrastructure Programs	000	1	2/1/2019	NEW	$125,361
														Subtotal = $125,361

Grand Total All Awards = $626,805

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Novel Genetic Models for Vertebral Abnormalities

Award Number: K01OD027051

ORGANIZATION: OFFICE OF THE DIRECTOR, NIH

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: TRAINING/TRAINEESHIP

PERIOD OF PERFORMANCE START DATE: 02/01/2019

PERIOD OF PERFORMANCE END DATE: 11/30/2025

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