Resources and insights

Albuquerque, New MexicoEquiSeq 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 breed.Cumulative data on over 75 Standardbreds show that the breed appears to be free of the P3 (FLNC), P4 (MYOZ3), and P8 (PYROXD1) genetic variants. Standardbreds have a high incidence of the P2 (MYOT) and K1 (COL6A3) genetic variants.Current research is focused on identifying Standardbreds that are homozygous for the K1 variant (K1/K1). These horses, along with n/K1 horses and n/n controls, will undergo veterinary examinations to increase our understanding of the disease state.Human patients with Bethlem Myopathy or Ullrich Congenital Muscular Dystrophy have comparable mutations in COL6A3.Owners of Standardbreds in the United States can participate in the study by sending an email to EquiSeq’s Chief Scientific Officer, Paul Szauter (pszauter@gmail.com), giving their postal mailing address and the number of Standardbreds that they have. They will receive consent forms and hair sample packs.

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 associated with PSSM1 and PSSM2 within the breed. We are also looking at pedigrees as well as the correlation between the genetic variants and symptoms. By enrolling your pony in this DNA Program you will get the PSSM2 test at a reduced price, but you also agree that the data will be gathered by the group for research purposes. We kindly ask that you provide all known information about the pony in the animal record, such as DOB, parentage, UELN. You may also be asked by the researchers to provide information about symptoms at a later stage. Please note that the pony must be a purebred Connemara to be eligible for participation in the program. Please get in touch with Hild Elisabeth Hoff (PSSM_connemararesearch@hotmail.com) if you have any questions.

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 venture capital firms Tramway Ventures and Cottonwood Technology Fund, as well as out-of-state venture capital firms and private investors. Circular Genomics is developing diagnostic tests for psychiatric disorders using circular RNA. Circular RNA is a recently discovered form of RNA that can serve as a biomarker in diagnostic tests. The company’s first target is depression, a disorder that affects tens of millions of Americans every year. Dr. Hafez served as EquiSeq’s CEO from February 2018 through October 2021. Under his direction, EquiSeq added new genetic tests to its Myopathy Panel, signed a licensing deal with Generatio GmbH – Center for Animal Genetics, and filed an additional patent application. The company also increased its research efforts by establishing collaborations with university researchers around the world. Dr. Paul Szauter, EquiSeq’s founder and Chief Scientific Officer, assumed the position of Acting CEO during a search for a successor. Hafez remained on…

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 for autistic adults and children (aged 8 and up) to strengthen authentic self-perception, self-possibility, and self-realization through mind/body interoceptive and somatic understanding combined with the philosophy of Hautism, which embraces and celebrates the innate connection between horses and autistic people. Wilderwood also rescues unwanted horses, provides them a lifetime loving home, and educates the community about horses and autism. Wilderwood adopted Lady Faith from EquiSeq. Lady Faith is n/K1 and free of other variants. She is the mare in which the K1 allele of COL6A3 was discovered by whole-genome sequencing.

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 Day sales. Wilderwood’s equine-assisted programs are an innovative and integrative approach designed for autistic adults and children (aged 8 and up) to strengthen authentic self-perception, self-possibility, and self-realization through mind/body interoceptive and somatic understanding combined with the philosophy of Hautism, which embraces and celebrates the innate connection between horses and autistic people. Wilderwood also rescues unwanted horses, provides them a lifetime loving home, and educates the community about horses and autism. EquiSeq became aware of Wilderwood when the charity agreed to adopt Lady Faith, a horse that has been part of EquiSeq’s research program for several years. Please watch this outstanding video about Wilderwood. Anyone wishing to donate to Wilderwood can reach out directly. Donations are tax-deductible. EquiSeq and Haw Creek Animal Hospital will publicly disclose their combined charity donation before the end of October.

Albuquerque, New Mexico The International Association of Future Horse Breeding (IAFH), a group of five German Warmblood associations, has developed a large-scale genotyping platform (a SNP array) for breed improvement. They have added tests for the variants in EquiSeq’s Myopathy Panel to the array. Results will be available to horse owners through Generatio GmbH – Center for Animal Genetics, which holds the exclusive license for EquiSeq’s tests in the EU and the UK. Below is a translation of their press release. Horse breeders have health in mind The health of the riding horses is important for every breeder. The International Association of Future Horse Breeding (IAFH) is dedicated to it. The focus is also on hereditary diseases such as PSSM2. The IAFH provides fundamental scientific work that leads to breeding measures to ensure the health of horses in the future. With the availability of differentiated molecular genetic laboratory analysis, the possibilities to assess the genetic predisposition of individual horses are growing. This applies to all characteristics that have been influenced by hereditary factors in their form, regardless of whether they follow simple or complex inheritances and whether they relate to performance, appearance, or health. Especially for the monitoring of hereditary diseases,…

Vechta, Germany PSSM2 (Polysaccharide Storage Myopathy Type 2) is a much discussed topic. Now the horse breeding associations for Holstein, Trakehner, Hanoverian, Oldenburg and Westphalia want to make genetic material available for research purposes to a project of the International Association of Future Horse Breeding GmbH & Co KG (IAFH). Muscle wasting, lameness, stiff gait, ataxia – PSSM2 has many symptoms, and probably more causes. The muscle disease is moving more and more into focus (we deal with it in detail in the May issue of St.GEORG). Now, for the first time, there is a joint initiative by the four largest breeding associations and the Trakehners. It’s about providing genetic data for research. For this purpose, the International Association of Future Horse Breeding GmbH & Co KG (IAFH), founded in Vechta in 2017 and based there, will cooperate with the licensee of the European patent for EquiSeq’s PSSM2 test panel, Generatio GmbH – Center for Animal Genetics. PSSM2 only occurs in older horses, which is why the associations involved find it important to investigate this hereditary disease first in the joint project. The research activities are to be coordinated by the data experts of the VIT (United Information Systems for Animal…

Albuquerque, New Mexico Paul Szauter, PhD, Chief Scientific Officer of EquiSeq, will present via Zoom at One Million Cups in Albuquerque on Wednesday, January 20, at 9:00 am MST. The format is a six-minute presentation followed by twenty minutes of questions and discussion. The presentation is open to the public via Zoom. Based on the notion that entrepreneurs discover solutions and engage with their communities over a million cups of coffee, the Ewing Marion Kauffman Foundation developed One Million Cups in 2012 – a free program designed to educate, engage and inspire entrepreneurs around the country. Through the power of volunteers, One Million Cups has grown to more than 160 communities. As a program of the Kauffman Foundation, One Million Cups works with entrepreneurs, empowering them with the tools and resources to break down barriers that stand in the way of starting and growing their businesses. Dr. Szauter founded EquiSeq in 2015 with no background in business. He was introduced to Albuquerque’s entrepreneurial community when he won a pitch competition in September 2014. He completed the ABQid Accelerator program in 2015. After a couple of years of regularly attending One Million Cups Albuquerque, he became one of the group’s volunteer organizers, recruiting and coaching other entrepreneurs. Dr. Szauter has…

Tubingen, Germany Generatio GmbH – Center for Animal Genetics (CAG) has added the P8 variant of PYROXD1 and the K1 variant of COL6A3 to its Variant Panel. These tests are now available to horse owners in the EU and UK. The launch followed licensing of these tests from EquiSeq. Generatio GmbH – Center for Animal Genetics (CAG) has the exclusive rights to these tests in the EU and UK. For horses already tested for P2 (MYOT), P3 (FLNC), P4 (MYOZ3), and Px (CACNA2D3), a test for P8 (PYROXD1) and K1 (COL6A3) is available. Horse owners in the EU and UK can order the  6-Variant Panel online from the Animal Trust Center (ATC).