Study of horse genomes explores genetic burden

A team of researchers at the University of Minnesota and the University of California, Davis, have published a landmark study of the predicted genetic burden in horses, based on the analysis of whole genome sequence data from 605 horses (1). They conclude that the genetic load in horses is 1.4 – 2.6 times that of the human population. The authors discuss the unique advantages of the study of horse to understand human phenotypes, especially those associated with athletic performance.

Horse owners have asked us to explain this paper, as it mentions the genetic variants that are in EquiSeq’s panel of DNA tests. Here we review the methods and major findings of this paper. We include background information typically absent from the primary literature in order to make the paper more accessible to non-specialists.

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What is PSSM?

Polysaccharide Storage Myopathy (PSSM) is a form of equine exercise intolerance characterized by episodes of tying up. Horses with this condition have a particular set of clinical signs, including displays of pain, refusal to move forward, trouble standing for the farrier, and standing “parked out” as if to urinate. All of these are signs of…

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Generatio Scientist Visits EquiSeq

Dr. Melissa Cox, a scientist at Generatio, visited with Chief Scientific Officer Dr. Paul Szauter at EquiSeq’s office in Albuquerque. Dr. Cox was visiting for a friend’s wedding, and made time for a two-hour discussion of scientific work at Generatio GmbH. Dr. Cox reviewed the results of a survey of horse owners exploring symptoms in…

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Free Testing for Standardbreds and Haflingers

Albuquerque, New Mexico A collaborative research team assembled by researchers at EquiSeq will end its offer of free testing for Standardbreds and Haflingers on March 31, 2023. The project is aimed at studying the K1 variant of COL6A3, which is present in high frequency in these breeds. The K1 variant affects the structure of collagen…

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Paul Szauter Invited to Speak at Genome Sciences Symposium

Seattle, WA Paul Szauter, EquiSeq’s Chief Scientific Officer, has been invited to speak at the Genome Sciences 20th Anniversary Symposium at the University of Washington in Seattle. The Symposium will be held November 10 – 11; the schedule includes presentations by Bill Gates, Francis Collins, George Church, and Genome Sciences Chair Robert Waterston. Dr. Szauter received his…

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Free Testing Expands Standardbred Genetics Research

Albuquerque, New Mexico EquiSeq has expanded its research program on the genetics of Standardbreds by offering free testing to owners of purebred horses. Standardbred owners in the United States can receive EquiSeq’s Myopathy Panel at no cost.  Standardbred owners received consent forms and sample kits beginning in December 2021, expanding an earlier survey of the…

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Connemara Pony PSSM Research Group Partners with Generatio GmbH

Bergen, Norway The Connemara Pony PSSM Research Group is now registered as a DNA Program with Generatio GmbH – Center for Animal Genetics (CAG). The research group is a small international group of knowledgeable Connemara-people independent of any breed society. We are gathering data with the aim to map the prevalence of the genetic variants…

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EquiSeq CEO Departs to Head Circular Genomics

Albuquerque, New Mexico Dr. Alex Hafez, CEO of EquiSeq, left his position in October 2021 to head a new company, Circular Genomics. Circular Genomics uses technology that Dr. Hafez developed in his dissertation research under the direction of Dr. Nikolaus Mellios. On November 30, Circular Genomics closed a $4.5 million investment round that included local…

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EquiSeq and Haw Creek Animal Hospital Raise $10,000 for Wilderwood Equine Therapy and Rescue

Peralta, New Mexico Paul Szauter, EquiSeq’s Chief Scientific Officer, attended an event at Wilderwood Equine Therapy and Rescue on October 30, to present Wilderwood with a donation from EquiSeq toward their equine therapy program. EquiSeq and Haw Creek Animal Hospital staged a joint fundraiser that raised $10,000 for Wilderwood. Wilderwood’s equine-assisted programs are an innovative and integrative approach designed…

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EquiSeq and Haw Creek Animal Hospital Join Fundraiser for Wilderwood Equine Therapy and Rescue

Albuquerque, New Mexico EquiSeq and Haw Creek Animal Hospital will join a charity fundraising effort for Wilderwood Equine Therapy and Rescue. EquiSeq will donate 10% of sales for the entire month of September 2021 to Wilderwood. Haw Creek Animal Hospital, in Asheville, North Carolina, stages a Labor Day Charity fundraiser every year, and this year will donate to Wilderwood from Labor…

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