Resources and insights

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 over 2,000 tested horses. A first analysis of the results appeared to show a statistical association of most of the variants with particular symptoms. With additional work, this study is expected to be ready for peer review in early 2024. Drs. Cox and Szauter also discussed ongoing work at EquiSeq using cell culture, a yeast assay, and experiments in zebrafish aimed at discovering the effects of specific variants on the proteins encoded by COL6A3, MYOZ3, PYROXD1, and FLNC. The meeting was a reunion for the two scientists, who overlapped at The Jackson Laboratory years ago. When EquiSeq began marketing its tests, Dr. Cox reached out about the possibility of licensing EquiSeq’s genetic tests. The conversation moved from email to a first phone call, where the two discovered that they had both been employed at The Jackson Laboratory at the same time. Dr. Cox recalled attended…

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 in muscle tissue. Collagen is part of the connective tissue that surrounds muscle fibers. Human patients with similar mutations have a myopathy called COL VI-related dystrophy. The K1 variant affects the organization of connective tissue in a cell culture assay, as reported by Chief Scientific Officer Paul Szauter at the 20th Anniversary Symposium of the Genome Sciences Department at the University of Washington in November 2022. Kirsten Dimmler, formerly a Bioinformatics Analyst at EquiSeq and now a graduate student with Dr. Molly McCue at the University of Minnesota, reported additional findings at the Plant and Animal Genomes conference in January 2023. The free testing program is open to all Standardbreds and Haflingers in the United States. Horse owners seeking testing will receive a consent form and hair sample pack by mail. To participate, send an email to contact@EquiSeq.com with the number of Standardbreds or Haflingers you…

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 PhD in Genetics from the University of Washington in 1980. Following an academic career as a Drosophila geneticist, he made a career transition to mammalian genomics and bioinformatics at The Jackson Laboratory in 2000. In 2011, he moved to New Mexico, where he worked at the University of New Mexico before entering the private sector in 2014. He founded EquiSeq in 2015. Dr. Szauter will present current research on the genetics of exercise intolerance in horses, including new results on COL6A3 and MYOZ3. The presentation, scheduled for 3:50 pm Pacific time on November 11, will be livestreamed on Zoom.