# Novel Genetic Models for Vertebral Abnormalities

> **NIH NIH K01** · PURDUE UNIVERSITY · 2021 · $125,361

## Abstract

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.

## Key facts

- **NIH application ID:** 10064099
- **Project number:** 5K01OD027051-03
- **Recipient organization:** PURDUE UNIVERSITY
- **Principal Investigator:** Kari J Ekenstedt
- **Activity code:** K01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $125,361
- **Award type:** 5
- **Project period:** 2019-02-01 → 2023-11-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10064099

## Citation

> US National Institutes of Health, RePORTER application 10064099, Novel Genetic Models for Vertebral Abnormalities (5K01OD027051-03). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10064099. Licensed CC0.

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