Investigation of Genetics & Characteristics of Scottie Cramp
HTF Support: $40.75k
Phenotyping was done on nearly 90 Scotties and 19 of 31 exhibited general spasticity and 12 of 31 exhibited hind limb spasticity and skipping. Frequency and severity decreased with use of fluoxetine, behavior modification and avoidance of triggers was found to be helpful in 7 dogs.
Researcher(s)
Natasha Olby Vet MB, PhD & Ganokon Urkasernsin PhD
University/Organization
North Carolina State University & AKC CHF
Publication: Journal of Small Animal Practice 2015 Apr;56(4):2
Fine Mapping of TCC Loci/Scotties, Westies & Shetland Sheep Dogs
HTF Support: $31k
Identification of 3 regions of the genome that may be associated with TCC opening up new fields of study to identify the gene mutation(s) associated with TCC susceptibility in Scotties, Westies, and Shetland Sheepdogs.
Researcher(s)
Elaine Ostrander PhD
University/Organization
National Human Genome Research Institute & AKC CHF
Publication: CHF Research Report, 8/5/2014
Targeted Therapies Hemangiosarcoma
HTF Support: $5k
Data showed that a subset of canine HSA tumors have mutations in the PIK3CA gene resulting in a dysregulation of the PI3K/AKT-mTOR pathway.
Recommended screening high risk patients & genetic panel.
Researcher(s)
Cheryl London DVM PhD
University/Organization
Tufts University School of Medicine & AKC CHF
Stopping Tick Infestation to Prevent Canine & Human Dx
HTF Support: $5k
This study evaluated the effectiveness of a variety of desiccants, botanicals and conventional pesticides to control ticks in the environment while enhancing safety for dogs & people. At high humidity products containing pyrethroids, pyrethrum and pathogenic fungi performed the best and at lower humidity (such as within the home) desiccants and botanicals also were effective. Direct application of these products to crack and crevice refuges should enhance control while reducing resident and companion animal exposure to pesticides.
Researcher(s)
Emma Weeks PhD
University/Organization
University of Florida & AKC CHF
ID Biomarkers Lymphoma Risk, Tx Golden Retrievers
HTF Support: $2.5k
This study found a distinctive genetic profile in large B cell diffuse (most aggressive) lymphoma; the most aggressive subtype of the disease in dogs, and further research will develop therapies for more successful outcomes and to predict the risk for developing this cancer in unaffected dogs.
Researcher(s)
Jeffery Bryan DVM, PhD
University/Organization
University of Missouri-Columbia & AKC CHF
Gene Discovery in Hereditary Cerebellar Abiotrophy/Scotties
HTF Support: $18k
Genome-wide association studies and linkage mapping identified a 4 Mb region on the X chromosome (CFA X) associated with Cerebellar Abiotrophy in Scotties. Further investigation will be needed to identify the gene mutation and potential genetic test.
Researcher(s)
Natasha Olby Vet MB, PhD
University/Organization
North Carolina State University & AKC CHF
Publication
PMCID: PMC5508367 PMID: 28556454
Sequencing ID of Bacteria /Canine Periodontitis & Oral Health
HTF Support: $1.2k
Study will identify bacteria causing canine periodontal disease using genetic analysis and DNA detection of bacteria. No progress report or summation received.
Researcher(s)
Marcello Pasquale Riggio PhD
University/Organization
University of Glasgow & AKC CHF
Screening/ Early Intervention in Bladder Cancer
HTF Support: $90k
Landmark study involving 100 Scottish Terriers who were followed for 3 years and resulted in recommendations to perform annual ultrasound screenings by age 6 years.
Researcher(s)
Deborah Knapp DVM, MS
University/Organization
Purdue University College of Veterinary Medicine
Publication
Front Oncol. 2022 Nov 11;12:1011969.
doi: 10.3389/fonc.2022.1011969 and
PMID: 38000695 DOI: 10.1016/j.tvjl.2023.106044
Novel Biomarkers/ Targets in Chronic Kidney Disease
HTF Support: $2.5k
Identify miRNAs in serum and urine that may serve as biomarkers for Chronic Kidney Disease (CKD) and supporting the development of diagnostic tests and drug development. This work continued with the support of additional CHF grants and resulted in several publications.
Researcher(s)
Mary Nabity DVM, PhD
University/Organization
Texas A & M & AKC CHF
Progression & Pathogenesis of Atypical Hyperadrenocorticism
HTF Support: $12.5k
A SNP (small nucleotide polymorphism) on Canine Chromosome 5 near the HSD17B2 gene may be associated with the elevated liver enzymes in Scotties. Further investigation is needed.
Researcher(s)
Kurt Zimmerman DVM, PhD
University/Organization
Virginia-Maryland Regional College of Veterinary Medicine & AKC CHF
Publication
PMCID: PMC6189480 PMID: 30356827
Immune Targeting of the V600E B-Raf Neoantigen in Canine Urothelial Carcinoma
HTF Support: $21k
The investigators used standard immunological methods and advanced genetic sequencing technology to study systemic and intra-tumoral immune responses to identify biomarkers that may predict immunological and clinical response in dogs.
Researcher(s)
Nicola Mason, PhD, BVetMed
University/Organization
University of Pennsylvania School of Veterinary Medicine & AKC CHF
Defining the Heritable Genomic Landscape in Scottish Terriers r/t Urinary Bladder Cancer Risk
HTF Support: $164.5k
Full genome sequencing and data analysis of 118 Scottish Terrier DNA samples collected during the screening and early intervention study to identify mutations associated with Urinary Bladder Caner risk. Preliminary results look very promising for the identification of a gene mutation. These preliminary results have led to the funding of the current project with Dr. Knapp.
Researcher(s)
Deborah Knapp DVM, MS
University/Organization
Purdue University College of Veterinary Medicine
