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New genetic test could help to uncover causes of rare diseases
It has been difficult to identify the causes of rare conditions, as so few people are affected.

Multi-stage sequencing approach can pinpoint defective genes

Researchers from the University of Edinburgh have developed a method of identifying genetic mutations that are linked to a rare form of muscular dystrophy. The study was published in the journal EBioMedicine, and was funded by a number of organisations, including Muscular Dystrophy UK and the medical research council.

This new approach could allow for cheaper and faster diagnosis of the condition called Emery-Dreifuss muscular dystrophy (EDMD), which affects around one in 100,000 people worldwide, and can take many years to diagnose clearly. Researchers state that this method could also be modified to screen for gene mutations involved in other rare diseases.

According to previous research, mutations in six different genes cause EDMD, however, these mutations are found in less than half of people diagnosed with the disease. This implies that other genes could also trigger it.

Researchers say this new multi-stage sequencing approach has been designed to identify other genetic mutations that might cause EDMD.

The study initially revealed that more than 300 genes that could be involved in the disease, including ones that perform a similar function to the genes already known to cause EDMD. Some that were identified are also linked to other forms of muscular dystrophy.

When these genes were analysed alongside the genetic code of 56 people diagnosed with EDMD,  more than 20 new mutations that appear to cause the condition were uncovered. Researchers say that these are likely most of the remaining genes linked to EDMD.

Director of research and innovation at Muscular Dystrophy UK Dr Kate Adcock said: “We know that many people with neuromuscular conditions are living without a genetic diagnosis. This research could pave the way to help people to get a diagnosis earlier. This will help people to manage their condition thereby helping to provide a better quality of life.”

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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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News Shorts
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.