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Genetic Research Projects
 

Behavior
Bladder Stones
Cancer
Cataracts
Epilepsy (2 studies)
Exercise Induced Collapse (EIC)
Hyaloid Arteries
Hypothyroidism
Juvenile Renal Dysplasia (JRD)
MDR1
Neuronal Ceroid Lipofuscinosis (NCL)

 

We also urge all Aussie owners to plan ahead for future projects by storing some of every dog’s blood in the CHIC DNA Repository. Make sure your dog’s sample will be available now and beyond your dog’s lifetime for vital research projects.

ASHGI also provides financial support to select research projects. If you would like to contribute to ASHGI’s Research Support Fund, please donate now!

Behavior

 

 

Project:

 

UPenn's Canine Behavior and Genetics Project
Goal:

Among others, to identify the gene(s) responsible for noise phobia and noise reactivity in Australian shepherds. A separate but related study seeks to identify characteristics and genes associated with outstanding performance in working dogs

 

Conducted by:

Karen L. Overall, MA, VMD, PhD, Diplomate ACVB
University of Pennsylvania

 

Samples needed from purebred Australian shepherds, both affected and unaffected by noise reactivity/phobia. Related individuals are particularly helpful in this study.

 

Sample type:

 

blood sample (about 6 mls)

Other requirements:

Pedigree
Willingness to fill out one short and one detailed questionnaire and send them back to us. (Without these, the blood sample loses 50% of its value)

 

Contact:

Donna Dyer
University of Pennsylvania
Center for Neurobiology and Behavior - Psychiatry Dept. - Penn Med
Translation Research Laboratory - 125 S. 31th St.
Philadelphia, PA 19104 .7051 USA
dyerdj@mail.med.upenn.edu

 

Bladder Stones

 

 

Project:

 

Hyperuricosuria (urate bladder stones)
Goal:

To determine whether a previously identified mutation found in Dalmatians is also present in the Australian Shepherd and other breeds.

 

Conducted by:

Danika Bannasch, DVM, PhD
University of California-Davis

 

Samples needed from purebred Australian Shepherds with urate bladder stones.

 

Contact:

Nili Karmiat
nkarmi@ucdavis.edu

 

Cancer

 

Project:

 

Canine Soft Tissue Sarcomas
Goal:

To identify genes responsible for causing hemangiosarcoma, lymphoma and soft tissue sarcomas in dogs.

 

Conducted by:

Matthew Breen, PhD
North Carolina State University

 

Samples needed from:

Purebred Australian Shepherds with hemangiosarcoma, lymphoma, soft-tissue sarcoma, or histiocytic malignancy. Samples from certain relatives of affected dogs are also desired. Tissues from other types of cancers will be accepted and banked for future research.

 

Sample type:

Tissue or blood

 

IMPORTANT: There are very specific requirements for sample submission to his study. Please contact the Breed Study Liaison (below) if you wish to contribute samples.

 

 

Other requirements:

 

Submission forms (provided by the Breed Study Liaison)
Pedigree
Tumor or other pathology reports on affected dogs

 

Contact:

Kim Monti, Breed Study Liaison
4aussies_16paws@foxwoodkennel.com
505-890-6150

 

ASHGI has partnered with the AKC Canine Health Foundation to fund this research.

 

 

Cataracts

 

 

Goal:

 

To identify additional genes responsible for causing cataracts in Australian Shepherds.
Conducted by: Catherine Mellersh, PhD
Animal Health Trust (AHT)

 

Samples needed from purebred Australian Shepherds with ANY kind of cataract.

 

 
Sample type:

Cheek swabs

 

Other requirements:

Submission forms (provided by AHT)
Pedigree
CERF form or equivalent diagnostic report
Mailing of completed packets to England


Contact:

Symone Ingram
Animal Health Trust (AHT)
Lanwades Park, Kentford
Newmarket, Suffolk CbK 7UU
United Kingdom
symone.ingram@aht.org.uk


Epilepsy

(2 studies)

 

Project:

Australian Shepherd Epilepsy Research Project

 

Goal:

To identify genes responsible for causing epilepsy in various breeds of dog, including the Australian Shepherd, and develop a DNA screening test.

 

Conducted by:

Ned E. Patterson, DVM, PhD, Dipl. ACVIM
James R. Mickelson, PhD
Canine Epilepsy Network
University of Minnesota


Samples needed from purebred Australian Shepherds:  
 
  • Dogs affected with epilepsy
  • Relatives of affected dogs within two generations
  • Normal dogs 6 years of age or older

Sample type:

Whole blood in EDTA tubes.

 

Sample submission forms:
Contact:

Neuromuscular Genetics Lab
University of Minnesota
C339 Veterinary Teaching Hospitals
1352 Boyd Ave.
St. Paul MN 55108
612-624-5322


ASHGI has partnered with the AKC Canine Health Foundation, Toby’s Foundation, the United States Australian Shepherd Association and the United States Australian Shepherd Foundation to fund this project.  
   
Project:

Effects of MDR1 on Anti-seizure Med Effectiveness

 

Goal:

To determine whether the MDR1 mutation makes epileptic dogs less responsive to seizure control medications.

 

Conducted by:

Karen Munana, PhD
North Carolina State University

 

Samples needed from purebred Australian Shepherds with epilepsy who are receiving anti-seizure medications.

 

 
Sample type:

Cheek swabs and a blood sample

 

Contact:

Julie Osborne, Study Coordinator
Julie_Osborne@ncsu.edu
919-513-6812

 

Exercise-Induced Collapse

 

 
Goal:

To identify genes responsible for causing EIC in Australian Shepherds and Border Collies and develop a DNA screening test.


Conducted by:

Ned E. Patterson, DVM, PhD, Dipl. ACVIM
University of Minnesota

 

Samples needed from purebred Australian Shepherds and Border Collies that have exhibited an episode of collapse during exercise.

 

 
Sample type:

blood preferred

 

Other requirements:

Completed questionnaire (provided by UMinn)
Pedigree


Contact:

Eva Furrow, VMD
University of Minnesota
C339 Veterinary Teaching Hospitals
1352 Boyd Ave.
St. Paul MN 55108
612-624-5322
furro004@umn.edu


Hyaloid Arteries

 

 
Goal:

To determine the inheritance of hyaloid Arteries and what relationship they may have to other eye defects.

 

Conducted by:

Kylie Munyard, PhD
Colin Sherry, BSc, BVMS
Curtin University of Technology


Data (eye exam sheets and pedigrees) needed on purebred Australian Shepherds diagnosed with any type of hyaloid artery and litter data (eye exam sheets on parents and all puppies plus pedigree) on litters where at least one case of HA was identified.

 

 
Contact:

Kylie Munyard, PhD
Curtin University of Technology
Perth, Australia
+61 8 9295 1354
K.Munyard@exchange.curtin.edu.au

 

More info on the Hyaloid Arteries in Aussies

 

 

Hypothyroidism

 

 
Project:

Hypothyroidism and owner-directed aggressive behavior

 

Goal:

To conclusively establish whether thyroid replacement treatment is helpful in treating behavior problems.

 

Conducted by:

Nicholas Dodman, RVMS
Linda P. Aronson, DVM
Tufts University
W. Jean Dodds, DVM
Hemopet/Hemolife Laboratories


Samples needed from dogs that exhibit owner-directed aggression and have low, or borderline-low, thyroid hormone levels. If your dog meets the behavioral criteria but no thyroid test has been done, the researchers may provide one free of charge. Dogs do not need to live near Tufts if the local veterinarian will assist in the study.

 

 
Contact: Nicole Cottam
Tufts Cummings School of Veterinary Medicine
508 887-4802
Nicole.cottam@tufts.edu

Juvenile Renal Dysplasia (JRD)

 

 
Goal:

To determine whether a previously identified mutation identified in Dalmatians is also present in the Australian Shepherd and other breeds.

 

Conducted by: Dr. Mary Whiteley
DOGenes, Inc.

Samples needed from purebred Australian Shepherds diagnosed with JRD.

 

 
Contact:

Mary Whiteley
DOGenes, Inc.
161 Sheren Ave.
Peterborough, ON K9J 7V5
Canada
705-748-0089
info@dogenes.com

 

Neuronal Ceroid Lipofuscinosis (NCL)

 

 
Goal:

To determine whether previously identified mutations causing NCL, a lethal neurological disorder featuring severe seizures, are present in the Australian Shepherd.

 

Conducted by:

Martin Katz
University of Missouri

 

Samples needed from:

 

 

  • Purebred Australian Shepherds diagnosed with or exhibiting signs typical of NCL (early-onset intractable seizures sometimes accompanied by behavioral changes or blindness.)
  • Parents and full or half siblings of NCL affected dogs.

Sample type:

 

 

  • From living affected dogs and their relatives – blood
  • From deceased NCL dogs – brain tissue sample
Contact:

Martin Katz, PhD
KatzM@health.missouri.edu


For more information about NCL see: http://www.caninegeneticdiseases.net/CL_site/mainCL.htm