LAS VEGAS, NV - 10/07/2016 (PRESS RELEASE JET)
The Mowat-Wilson Syndrome Foundation is pleased to announce it was recently awarded a grant through Genetic Alliance, a leading nonprofit health advocacy organization, to establish a patient registry for individuals that have been diagnosed with Mowat-Wilson Syndrome (MWS). The grant will allow the Foundation to use Genetic Alliance’s Platform for Engaging Everyone Responsibly (PEER) to build and house the registry.
The registry will facilitate the capture of key medical, genetic, treatment and demographic data for MWS patients. This in turn will allow expert clinical researchers to extract important information, study genotype correlations to clinical outcomes and it will aid physicians who care for individuals with MWS.
“As is true for many rare genetic conditions, our ability to collect clinically relevant information that can help physicians provide excellent patient care is limited because each provider has only a small number of patients with the condition,” said Dr. Margaret Adam, Associate Professor of Pediatrics at the University of Washington Medical Center and member of the Mowat-Wilson Syndrome Foundation medical advisory board. “To further our knowledge of the breadth of MWS requires engagement of the involved community and a platform on which information can be securely and accurately entered and curated,” she said.
An important feature of PEER is that it is highly customizable and parents or guardians of MWS patients can set their own sharing, privacy and data access preferences.
“The use of personalized sharing, privacy, and data access preferences is an important feature of PEER,” said Sharon Terry, president and CEO of Genetic Alliance. “PEER enables cross-condition research where community is front and center: each group using the platform customizes their own portal to the registry, while connecting to other communities’ portals on the system’s backend. This empowers participants to contribute to research questions that matter to them, and simultaneously share their data more broadly – under data sharing and access permissions that they choose. We’re thrilled to partner with MWSF in this vision, and look forward to seeing them launch!”
The Foundation hopes to have the registry up and running by October 15, 2016 and is aiming to have 100 participants engaged with the registry within the first year.
MWS is a recently discovered syndrome (defined in 1998) and much is still being learned about the physical, behavioral and developmental issues associated with this rare genetic disorder. Major signs include distinctive facial features, intellectual disability, delayed development, intestinal disorders, seizures, congenital heart disease, agenesis of the corpus callosum, male genital abnormalities (hypospadias), and major expressive language difficulty. Most Mowat-Wilson children are non-verbal and experience delayed development of motor skills such as sitting, standing, and walking. Despite their many difficulties, MWS children typically have friendly and happy personalities, though they will require intense medical attention and personal care throughout their entire lives.
To learn more about MWS visit www.mowat-wilson.org.
For more information on PEER click here.
The mission of the Mowat-Wilson Syndrome Foundation is to enhance the lives of people affected by Mowat-Wilson Syndrome by providing family support, raising awareness, and supporting research and education.
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