Navigation Links
KCNQ2 Cure Alliance and The Jackson Laboratory Collaborate on Precision Mouse Models of Genetic Epilepsy
Date:10/15/2015

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.

Read the full story at http://www.prweb.com/releases/2015/10/prweb13021521.htm.


'/>"/>
Source: PRWeb
Copyright©2015 Vocus, Inc.
All rights reserved


Related medicine news :

1. SunView Software Joins Microsoft Enterprise Cloud Alliance
2. FEI to Present at Alliance for Strong Families and Communities National Conference
3. Sepsis Alliance Founder Carl Flatley Nominated for The NASCAR Foundation’s Betty Jane France Humanitarian Award Presented by Nationwide
4. Three Health Systems Form Regional Alliance to Enhance Care, Benefit Communities
5. OncLive® Welcomes The US Oncology Network as Newest Member of Strategic Alliance Partnership Program
6. Leading Workplace Violence Prevention Expert, W. Barry Nixon, SPHR Appointed to the National Action Alliance for Suicide Prevention
7. Alliance Healthcare Foundation Announces $1 Million Award for its 2015 Innovation Initiative
8. Zecurion Achieves Worldwide Silver Partner Status in the Samsung Enterprise Alliance Program
9. Major New Alliance Formed to Transform How Health Care is Delivered and Financed in New Jersey
10. Exclusive Survey by the Alliance for a Healthier Generation and Woman’s Day Reveals Families are More Likely to Be Sedentary than Physically Active
11. CDC and Sepsis Alliance Team Up for Sepsis Awareness Month
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:3/29/2017)... ... 29, 2017 , ... Patients interested in receiving quick and ... Jamie Cameron, with or without a referral. The FASTBRACES system is valued for ... each patient’s case, treatment with the FASTBRACES system could be completed in 120 ...
(Date:3/29/2017)... ... March 29, 2017 , ... Curio Wellness , a ... the finalization of the company’s executive management team with prominent executives from both inside ... Curio Wellness’ Chief Operating Officer, Ted Dumbauld , who has more than twenty ...
(Date:3/29/2017)... CA (PRWEB) , ... March 29, 2017 , ... Hamlin ... Northridge , is now offering laser dental treatments. Dental lasers are safe and effective ... dentistry expands patients’ options and can improve the overall quality of care. , Dr. ...
(Date:3/29/2017)... ... March 29, 2017 , ... VisualSP has helped over 1.5 ... the only option for on-premises installation of its Help System for SharePoint was at ... the system into the entire tenant. , The company recently released a modified ...
(Date:3/28/2017)... ... March 28, 2017 , ... Greenfield Advisors is ... his extensive knowledge of appraisals, property values, ad valorem taxation, and government policy ... industry for more than 40 years. , “Ruel is a great addition to ...
Breaking Medicine News(10 mins):
(Date:3/28/2017)... , March 28, 2017  Rosen Law Firm, ... of a class action lawsuit on behalf of purchasers ... KTOV ) pursuant and/or traceable to Kitov,s initial public ... and/or on the open market from November 20, 2015 ... Period"). The lawsuit seeks to recover damages for Kitov ...
(Date:3/28/2017)... 2017 Summary ... as a Key Component of Multichannel Marketing" provides ... landscape in the digital age. While the ... medical advancements, it has been much slower to ... on traditional channels and methods. However, the decreasing ...
(Date:3/28/2017)... -- Orexigen Therapeutics, Inc. (Nasdaq: OREX ) today ... and year ended December 31, 2016. ... Orexigen, beginning with the re-acquisition of the rights to ... team at Orexigen demonstrated remarkable focus, executing on a ... our Company while rewarding us full control of our ...
Breaking Medicine Technology: