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Vets identify genetic cause of fatal condition in Thoroughbreds
EFIH is an invariably fatal condition that causes involuntary contraction of muscles and seizures in Thoroughbred foals.
Study of affected foals reveals a mutation in the RAPGEF5 gene.

A genetic cause of equine familial isolated hypoparathyroidism (EFIH) in Thoroughbreds has been identified by researchers at the UC Davis School of Veterinary Medicine.

Researchers say their finding, reported in PloS Genetics, marks the first genetic variant for hypoparathyroidism identified in any domestic animal species. It is also the first widely available genetic test for Thoroughbreds.

“For Thoroughbred owners and breeders, the loss of a foal has tremendous economic and emotional impacts,” says first author Victor Rivas. “It is important to promote safe and strategic breeding habits by actively breeding horses genetically screened not only for EFIH but for other diseases that may impact quality of life.”

EFIH is is an invariably fatal condition that causes involuntary contraction of muscles and seizures in Thoroughbred foals. Foals with the disease typically have low levels of parathyroid - a hormone that controls calcium levels - and often die or are euthanised owing to poor prognosis.

In the study, researchers identified an autosomal recessive mode of inheritance and performed whole-genome sequencing of two affected foals. They found that a mutation in the rap guanine nucleotide exchange factor 5 (RAPGEF5) gene was present in two copies in both foals.

The team further analysed the variant and demonstrated loss-of-function of the RAPGEF5 protein leading to aberrant development. Their study concludes that RAPGEF5 could play a key role in the derivation of the parathyroid gland during development.

“The next steps are to assess the allele frequency in a large population of randomly selected Thoroughbreds,” explained study lead Dr Carrie Finno. “Additionally, we have discussed collaborating with Dr Nathan Slovis at Hagyard Equine Medical Institute in Kentucky to test for the variant in cases of ‘sudden death’ in Thoroughbred foals.”

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Vets to run marathon for World Animal Protection

News Story 1
 Two recently graduated veterinary surgeons will be running the London Marathon in April to raise money for the charity World Animal Protection.

Alex Bartlett and Maeve O'Neill plan to run the race together if they are given the same start times.

Dr O'Neill said: "You're always limited in what you can do to help animals, so it is nice to raise money for a charity that helps animals around the world."

Dr Bartlett added: "I have never run a marathon before and am excited to run my first one for such a good cause!"

Both Dr Bartlett and Dr O'Neill have fundraising pages online. 

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BSAVA releases new Guide to Procedures

The British Small Animal Veterinary Association (BSAVA) has published a new edition of its Guide to Procedures for Small Animal Practice.

It has added four new procedures; cystostomy tube placement, endotracheal intubation, point-of-care ultrasound and wet-to-dry dressings.

BSAVA says that it is an essential step-by-step guide to diagnostic and therapeutic procedures performed in practice. The textbook includes new images and illustrations, as well as high-definition videos for use prior to procedures.

Nick Bexfield and Julia Riggs, editors of the new edition, said: "We have built upon the success of the previous editions by responding to the feedback received from the BSAVA readership, and hope this new guide helps to further increase the confidence and accuracy with which these procedures are performed."

Print copies are available in the BSAVA store, with a digital version in the BSAVA library.