Eleanor Raffaner311 Active 4 years, 9 months ago
Department of Physiology, Development and Neuroscience, Institute of Metabolic Science -Metabolic Research Laboratories
Department of Veterinary Medicine
I am interested in how genes influence metabolism. In dogs, selective breeding has resulted an unusual genetic architecture which makes mapping disease associated loci remarkably tractable with much smaller numbers than in human populations. We study pet dogs and use comparative genomics to identify genes that are responsible for determining obesity susceptibility in dogs and humans. The mechanism of action and physiological consequences of variants of interest are tested in the lab in cellular models, and at a whole-dog level by examining their effect on eating behaviour and physiology.
Our overall aim is to better understand how genes link to obesity in both dogs and humans, in order to reveal mechanistic links and identify targets to improve obesity prevention and treatment.
I am a veterinary surgeon with specialist clinical qualifications in small animal medicine. In 2013 I set up the GOdogs Project , investigating the genetics of obesity in dogs. I am based at the Institute of Metabolic Science but our canine studies are carried out at the Dept. Veterinary Medicine where I am an Associate Lecturer.
Biochemistry and Molecular Biology, Computational Biology, Epidemiology, Endocrinology, Genetics, Neuroscience, Rare diseases, Other
A deletion in the canine POMC gene is associated with weight and appetite in obesity
Hepatic lipodystrophy of Galloway calves.
Development, factor structure and application of the Dog Obesity Risk and Appetite (DORA) questionnaire.
Better research reporting for better patient care.
The coding sequence of POMC and obesity and appetite in Labrador retriever dogs.
The big problem: battling companion animal obesity.
Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2 : C48R: A Novel Mutation in AGPAT2.
Next generation sequencing – implications for clinical practice.
Early diagnosis of Werner’s syndrome using exome-wide sequencing in a single, atypical patient.
Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling.
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