KCNQ2 Cure Alliance and The Jackson Laboratory Collaborate on Precision Mouse Models of Genetic Epilepsy

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KCNQ2 Cure Alliance Foundation and The Jackson Laboratory today announced a collaboration to construct mouse models of KCNQ2 encephalopathy, a severe genetic form of epilepsy and developmental disabilities.

Models created by The Jackson Laboratory could lead to new discoveries benefitting not only the patients living with this severe rare disease, but also people suffering from other more common epilepsies and other neurological diseases.

KCNQ2 Cure Alliance Foundation and The Jackson Laboratory today announced a collaboration to construct mouse models of KCNQ2 encephalopathy, a severe genetic form of epilepsy and developmental disabilities. The models will be created at the Rare and Orphan Disease Center at The Jackson Laboratory (JAX).

The KCNQ2 Cure Alliance proposed the collaboration with Dr. Cathleen Lutz, Director for the Center of Rare and Orphan Diseases at JAX and Dr. Wayne Frankel, renowned expert in the use of mouse models in the study of epilepsy. The KCNQ2 Alliance efforts were led by experts including Dr. David Goldstein, Director of Genomic Medicine, Columbia College of Physicians & Surgeons; Dr. Edward Cooper, Associate Professor of Neurology & Neuroscience, Baylor College of Medicine; and Dr. Steven Petrou, University of Melbourne & Florey Institute of Neuroscience & Mental Health. Based on the proposal, JAX will initially produce models of KCNQ2 encephalopathy involving three different variants of the mutation, which were selected based on their unique profiles in causing the disease.

The models of KCNQ2 encephalopathy created by JAX will be made widely available to the scientific community to enable further study of the disease and the development of treatments that may benefit people affected by this mutation. “Research conducted using the models created by The Jackson Laboratory could lead to new discoveries benefitting not only the patients living with this severe rare disease, but also people suffering from other more common epilepsies and other neurological disorders,” said David Goldstein, Director of Genomic Medicine, College of Physicians & Surgeons and member of the scientific advisory board of the KCNQ2 Cure Alliance.

“Our organization and the global KCNQ2 community that we represent are pleased to be working with The Jackson Laboratory,” said Jim Johnson, Co-Founder and President of the KCNQ2 Cure Alliance. “We are hopeful that these models of KCNQ2 encephalopathy will lead to improved treatments and look forward to engaging with additional organizations to help improve the lives of people living with this disease.”

About KCNQ2 Encephalopathy: KCNQ2 encephalopathy, which has only recently been characterized, is a disease of seizures and significant developmental disabilities caused by a rare mutation in the KCNQ2 gene. Depending on the precise nature of the mutation, people with KCNQ2 encephalopathy have a broad range of motor and cognitive disabilities, in addition to seizures, and are unable to function independently.

The Jackson Laboratory is an independent nonprofit biomedical research institution and maintains one of the largest mouse repositories in the world. It employs 1,700 staff, and its mission is to discover precise genomic solutions for disease and empower the global biomedical community in the shared quest to improve human health.

KCNQ2 Cure Alliance Foundation is an organization committed to educating families and advancing research leading to treatments or a cure for patients living with this severe genetic form of epilepsy.

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KCNQ2 Cure Alliance Foundation

Caroline Loewy

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