AKC Canine Health Foundation:
01425 Identification of epilepsy-causing mutations from the associated loci by next-generation resequencing
Dr. Hannes T Lohi, PhD
University of Helsinki and the
Folkhälsan Institute of Genetics
9/12/2010 $86,400.00 - ASCF $3,000.00 matched funds
Epilepsy is the most common neurological disease in dogs and affects almost all breeds. Epilepsy runs often in families suggesting the risk for having the disease is genetic. Only a few recessive genes have been found in dogs with progressive myoclonus epilepsies, a specific type of epilepsy. For the more common idiopathic epilepsy, the genetic background is unknown. The investigators have identified several new disease genetic loci in many breeds for epilepsy. They propose to look more closely at these genetic loci in three breeds, Belgian Shepherds, Kromforhrlanders and Border Terriers. They will examine the actual DNA sequences of these candidate genes and the surrounding DNA (where the control regions for gene expression are often found) for the specific mutation that predisposes a dog to epilepsy. The identification of the mutation will allow the investigators the ability to develop genetic tests for perhaps many dog breeds and will provide insight into the pathogenesis of the disease. This will lead to better diagnosis and treatments. It is likely that if the genes are found to have mutations for these three breeds, other breeds, as well as human epilepsy patients, can be tested for the same mutations.
The investigators have identified genetic loci for epilepsy and will examine the specific DNA sequences for the mutations that may be responsible for the disease. This work may benefit Spaniels and other breeds that are prone to epilepsy.
ASCF has contributed over $65,000.00 for research!
© American Spaniel Club Foundation, Inc. 2010 - All Rights Reserved
HEALTH- GRANTS
Improving the health, welfare and general advancement of Flushing Spaniels, Cocker Spaniels in particular.
Give Back to the breed that has given so much to you!
2011 Grants
01424 Genetic analysis of Cleft Palate/lip
Primary Investigator: Dr. Danika L Bannasch, DVM PhD
Institution: University of California, Davis - School of Veterinary Medicine
Total Grant Amount: $50,000.00 - ASCF $3,000.00 matched funds
Project Abstract:
Cleft palate is a birth defect that occurs at a relatively high frequency in the Nova Scotia Duck Tolling Retriever (NSDTR) dog breed. Cleft palate causes inadequate sucking and swallowing and many puppies die of starvation due to their inability to nurse. In breeds of dogs with a known predisposition and high prevalence of cleft palate, cleft palate puppies are identified at birth and euthanized to prevent further suffering. We have performed a genome wide search and identified a chromosomal region that causes cleft palate/lip in the NSDTR. It is likely that this mutation causes cleft palate in other breeds since many mutations are shared across breeds. We propose to determine if other breeds affected with cleft palate share the same region of the genome and to use this information to identify the gene responsible. Identification of the causative gene or mutation for cleft palate in dogs will allow a genetic test to be designed and offered to breeders so that they will be able to make informed breeding decisions. In addition, finding the mutation in dogs could identify a good candidate gene for human cleft palate.
The investigators will have the research materials available to perform this proposal. If successful, the results will provide a genetic test to identify carriers of a mutation that predisposes the occurrence of cleft palate in hopefully multiple breeds. The use of the Nova Scotia Duck Tolling Retriever, a rare breed, has already identified a chromosomal region that is associated with cleft palate/lip and if other breeds share the same region it will allow the investigators to target this region to identify the causative mutation.
Morris Animal Foundation
1 Identifying Genetic Mutations for Cataracts in Australian Shepherds
Australian Shepherds depend heavily on their eyesight when herding stock animals such as cattle and sheep. Unfortunately, this breed has an increased risk of developing hereditary cataracts (HC), the most common eye disease leading to blindness in purebred dogs. This study investigates the genetic basis of HC in Australian Shepherds. Although recent studies have identified a mutation in the HSF4 gene that partially accounts for HC in this breed, about 10 percent of affected dogs do not carry this mutation while 15 percent of dogs reported to be clear of cataracts are carriers of this mutation. Consequently, the inability to accurately determine a dog’s genetic risk for cataracts has led to difficulties for the breeding community. Researchers aim to identify additional genetic mutations that contribute to HC in Australian Shepherds by comparing the DNA of affected and unaffected dogs over 8 years old. If successful, the research could benefit Australian Shepherds and other breeds and could also help prevent this debilitating eye disorder.
Principal Investigator: Dr. Sally Ricketts, Animal Health Trust and the Centre for Preventive Medicine, United Kingdom, First Award Grant
Co-sponsor: Orthopedic Foundation for Animals; The Australian Shepherd Health & Genetics Institute, Inc.
Study ID: D10CA-303
Total Study Cost: $62,193 - ASCF $3,000.00
Review: Cataracts are one of the major health concerns for Cocker Spaniels and although this study is focused on Australian Shepherds, the research could benefit other breeds, including the Cocker Spaniel. Both breeds have an increased risk of developing hereditary cataracts (HC). Recent research has identified a mutation in the HSF4 gene, but this accounts for only 10% of HC in Australian Shepherds and another 15% carry this mutation but are clear of the disease. It is highly probable that other genetic mutations are responsible for HC. The grant proposes to identify additional genetic mutations that afflict Australian Shepherds. If successful, this may be applicable to many breeds with HC, including the Cocker Spaniel. The Orthopedic Foundation for Animals and the Australian Shepherd Health and Genetics Institute are supporting this grant, which reflects its importance and relevance to the health of many dog breeds.
5 Treating Canine Paralysis with Stem Cells
Most dogs who suffer from a severe spinal fracture that causes paralysis of the hind legs and loss of sensation will remain permanently paralyzed and unable to urinate. Numerous studies have shown that transplantation of a variety of cell types into an injured spinal cord is safe and can produce improvement. However, for the therapy to be clinically practical, transplantation of cells derived from the patient (autologous cells) is ideal, and combining different therapies is needed to improve the host regenerative response and survival, and integration of transplanted cells. With the recent explosion of stem cell therapy research, poorly controlled studies have resulted in contradictory results, making it unclear whether transplantation is effective. Investigators will compare the effect of three different therapies in chronically paraplegic dogs. This blinded clinical trial will rigorously compare a novel cellular transplantation therapy with different control groups. A positive result will provide a clinically applicable stem cell therapy for chronic canine paralysis.
Principal Investigator: Dr. Natasha J. Olby, North Carolina State University
Total Study Cost: $297,578 - ASCF $3,000.00
6 MADGiC: Making Advanced Discoveries in Golden Cancers
Golden retrievers have been one of the most popular breeds in America for decades, but unfortunately these dogs also have one of the highest incidences of cancer. Hemangiosarcoma and lymphoma account for more than 30 percent of the deaths in this breed. Although breed susceptibility to cancer was first reported 30 years ago, the relationship between inherited traits and susceptibility for these cancers is still not known. The Golden Retriever Foundation and Morris Animal Foundation are funding MADGiC (Making Advanced Discoveries in Golden Cancers), a study that aims to discover and characterize heritable and somatic cancer mutations in golden retrievers. The three-year, $1 million project will examine heritable (genetic) traits that contribute to risk and progression of hemangiosarcoma and lymphoma in golden retrievers. The long-term goal is to understand what causes these diseases. Because both cancers occur with such high frequency, reducing their incidence (while retaining the positive phenotypes of the breed) will be a complex task, but the development of reliable genetic tests would allow breeders to build programs whereby high-risk combinations of factors could be avoided. In addition, effective strategies could be developed to control and treat hemangiosarcoma and lymphoma in golden retrievers and other dogs, and as importantly, what is learned from this research also may be applicable to develop effective prevention and treatment strategies for these diseases in people.
Principal Investigator: Principal Investigator: Drs. Jaime F. Modiano, Matthew Breen and Kerstin Lindblad-Toh, Institutions: North Carolina State University, University of Minnesota and Uppsala University, Sweden
Total Study Cost: $1,109,688 - ASCF $3,000.00
Fully Sponsored: Golden Retriever Foundation & Morris Animal Foundation
