Taconic Biosciences Sponsors Custom Model to Support Kabuki Syndrome, a Rare Disorder Causing Intellectual Disability
HUDSON, N.Y., Aug. 31, 2017 (GLOBE NEWSWIRE) -- Taconic Biosciences, a global leader in genetically engineered rodent models and associated services, is funding the development of a custom mouse model to study Kabuki syndrome, a rare genetic disorder. Taconic is donating model generation services as a third-time sponsor of the Rare Disease Science Challenge, BeHEARD . Hosted by the Rare Genomics Institute, the Rare Disease Science Challenge is an annual event in which industry sponsors donate services to accelerate rare disease research.
Characterized by mild to moderate intellectual disability, stunted growth, immune dysregulation, and hearing loss, Kabuki syndrome is caused by mutations in the KMT2D or KDM6A genes. Taconic will use CRISPR/Cas 9 gene editing technology to develop the first Kmt2d missense mouse model of Kabuki syndrome and generate a cohort of mice for study. In parallel, Taconic will cryopreserve and store the mouse line.
"Taconic recognizes the vital role mouse models play in understanding the mechanisms of rare diseases and the challenges of funding their research," said Bob Rosenthal, CEO, Taconic Biosciences. "Taconic is committed to advancing rare disease research through efforts such as sponsorship of the BeHEARD challenge and donation of an integrated solution of model generation, breeding and cryopreservation capabilities."
Teresa Luperchio, PhD, a postdoctoral fellow in the laboratory of Hans Bjornsson, MD, PhD, director of the Epigenetics and Chromatin Clinic, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, will employ the Taconic model. Dr. Bjornsson's lab previously characterized a mouse model carrying a loss-of-function variant of the Kmt2d gene and demonstrated reversal of some learning and memory deficits using therapeutic strategies. However, the initial mouse line models only a subset of individuals with Kabuki syndrome. Taconic will generate a Kabuki syndrome mouse model based on a patient-specific missense mutation. This will enable investigators to assess whether therapies they are developing can reverse disability in a wider spectrum of the Kabuki syndrome patient population.
"The model will be invaluable in moving the field closer to treating what has been viewed as an untreatable disorder. Experience with our first mouse model showed that for patients with the KMT2D mutation, the disease may be treatable in humans," Dr. Bjornsson said. "We hope the Taconic model will demonstrate this capability in an expanded patient population, allowing us to employ a single therapeutic strategy for all Kabuki syndrome type 1 patients."
"Taconic's ability to develop a patient-specific model was essential. Generating a model that closely represents what is seen in patients is critical for translating our findings from the bench to the clinic," Dr. Luperchio says.
To learn more about Taconic's custom model generation, please call 1-888-TACONIC (888-822-6642) in the US or +45 70 23 04 05 in Europe, or email email@example.com .
To learn about the BeHEARD Project, visit http://www.raregenomics.org/beheard-competition/ .
About Taconic Biosciences, Inc.
Taconic Biosciences is a global leader in genetically engineered rodent models and services. Founded in 1952, Taconic helps biotechnology companies and institutions acquire, custom generate, breed, precondition, test, and distribute valuable research models worldwide. Specialists in genetically engineered mouse and rat models, precision research mouse models, and integrated model design and breeding services, Taconic operates three service laboratories and six breeding facilities in the U.S. and Europe, maintains distributor relationships in Asia and has global shipping capabilities to provide animal models almost anywhere in the world.
Kelly Owen Grover
Director of Marketing Communications
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