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News Article | February 17, 2017
Site: www.marketwired.com

HUDSON, NY--(Marketwired - Feb 17, 2017) - Taconic Biosciences, a global leader in genetically engineered rodent models and associated services, announced it has generated a novel mouse model of Vici syndrome for use by two investigators studying this rare disease. As a corporate sponsor of the Rare Disease Science Challenge: BeHEARD, hosted by the Rare Genomics Institute, Taconic donated model development services. Using CRISPR/Cas9 gene editing, Taconic developed and validated a mouse model carrying the EPG5 mutation found in Vici syndrome patients in multiple families. A highly efficient way to generate custom mouse and rat models on a short timeline, CRISPR is one of many technologies Taconic employs to generate models of human disease and support investigator studies of gene function in vivo. Genetically engineered mice of the Vici syndrome model have been delivered to the investigators working on the BeHEARD project: Mathias Gautel, BHF Chair of Molecular Cardiology at King's College London BHF Research Excellence Centre, and Heinz Jungbluth, Reader in Paediatric Neurology at King's College, and Consultant at the Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London. "The precision of the genetic manipulation by Taconic and their speed of delivery were critical to our work," Prof. Gautel and Dr. Jungbluth said. The investigators are now using the mice to validate the model's replication of the human phenotype of the disease, in terms of neurological, musculoskeletal and other organ symptoms. "If the model replicates the human phenotype with significant fidelity, it could be applied quite rapidly to screening drug compounds for Vici syndrome," Prof. Gautel said. Rachel and Michael Harris, parents of 10-year-old Vici syndrome patient David, submitted the proposal for the BeHEARD project and are hopeful the model will facilitate development of effective therapies. "While the initial research is focused upon understanding the disease mechanisms, we hope to soon see translational research that will bring new therapies to David and other patients," Michael Harris said. "Taconic's core mission is to provide animal models that help accelerate drug discovery. Being able to support critical research on a rare disease like Vici syndrome through custom genetically engineered models is extremely rewarding," said Dr. Robert Rosenthal, chief executive officer of Taconic Biosciences. Taconic has over twenty years' experience designing custom transgenic models for leading pharmaceutical, biotech and academic clients. Taconic is fully licensed to utilize CRISPR/CAS9, homologous recombination and other technologies to develop custom mouse and rat models, including humanized, knockout, knock-in, inducible shRNA, or microRNA expressing models. Vici syndrome is a severe congenital multisystem disorder characterized by a failure to develop the corpus callosum region of the brain, along with a cardiomyopathy, cataracts, hypopigmentation of the skin, eyes and hair, and a combined immunodeficiency. 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 info@taconic.com. To learn more about the BeHeard Project, visit http://www.raregenomics.org/beheard-competition/. About Taconic Biosciences, Inc. Taconic Biosciences is a fully-licensed, 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.


Lagae L.,Paediatric Neurology | Verstrepen A.,Paediatric Neurology | Nada A.,Paediatric Neurology | Van Loon J.,Catholic University of Leuven | And 3 more authors.
Epileptic Disorders | Year: 2015

Aim. To study the efficacy of vagus nerve stimulation (VNS) therapy in a highly drug-resistant childhood epilepsy patient group and to investigate the effect of age at implantation on efficacy. Methods. The efficacy of VNS treatment was analysed in a cohort of 70 patients with drug-resistant epilepsy. Both children with focal (n=16) and generalized epilepsies (n=54) were included. Age at implantation varied between 19 months and 25 years. Results. Overall, responder rate was 54% with 5.7% children becoming seizure-free. The only factor in our analysis that could predict good outcome was age at implantation. In the youngest group (<5 years), the responder rate was 77% and this group also included three of the four seizure-free children. These three seizure-free children were known to have tuberous sclerosis. There were no outcome differences between generalized and focal epilepsies. Conclusions. Our single centre study confirms previous studies on the efficacy of VNS in children. A larger study using multivariate analysis to disentangle the contribution of different factors (such as age at implantation, aetiology, and epilepsy duration) is necessary to confirm our preliminary finding that younger age at VNS implantation might result in a better outcome. Copyright © 2015 JOHN LIBBEY EUROTEXT.


PubMed | Paediatric Neurology., University Hospitals euven and University of Antwerp
Type: Journal Article | Journal: Epileptic disorders : international epilepsy journal with videotape | Year: 2015

To study the efficacy of vagus nerve stimulation (VNS) therapy in a highly drug-resistant childhood epilepsy patient group and to investigate the effect of age at implantation on efficacy.The efficacy of VNS treatment was analysed in a cohort of 70 patients with drug-resistant epilepsy. Both children with focal (n=16) and generalized epilepsies (n=54) were included. Age at implantation varied between 19 months and 25 years.Overall, responder rate was 54% with 5.7% children becoming seizure-free. The only factor in our analysis that could predict good outcome was age at implantation. In the youngest group (<5 years), the responder rate was 77% and this group also included three of the four seizure-free children. These three seizure-free children were known to have tuberous sclerosis. There were no outcome differences between generalized and focal epilepsies.Our single centre study confirms previous studies on the efficacy of VNS in children. A larger study using multivariate analysis to disentangle the contribution of different factors (such as age at implantation, aetiology, and epilepsy duration) is necessary to confirm our preliminary finding that younger age at VNS implantation might result in a better outcome.


Rodgers W.P.,Paediatric Neurology | Durnford A.J.,University of Southampton | Kirkham F.J.,Paediatric Neurology | Kirkham F.J.,University of Southampton | And 3 more authors.
Journal of Neurosurgery: Pediatrics | Year: 2012

Object. Interrater reliability as measured by the kappa (κ) statistic is a widely used and valuable tool to measure the robustness of a scoring system. Seizure frequency reduction is a central outcome measure following vagus nerve stimulation (VNS). A specific VNS scoring system has been proposed by McHugh, but its interrater reliability has not been tested. The authors assessed its interrater reliability and compared it with that of the Engel and International League Against Epilepsy (ILAE) systems. Methods. Using the Engel, ILAE, and McHugh scoring systems, 3 observers independently rated the medical records of children who had undergone vagus nerve stimulator implantation between January 2001 and April 2011 at the Southampton University Hospital. The interrater agreements were then calculated using the κ statistic. Results. Interrater reliability for the McHugh scale (κ0.693) was very good and was superior to those of the Engel (κ0.464) and ILAE (κ0.491) systems for assessing outcome in patients undergoing VNS. Conclusions. The authors recommend considering the McHugh scoring system when assessing outcomes following VNS.

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