The Mowat-Wilson Syndrome Foundation is extremely pleased to announce that we are the recipient of a grant thru Genetic Alliance to establish a MWS patient registry! We will be using their Platform for Engaging Everyone Responsibly (PEER) to build and house the MWS patient registry.
“Go Live” date for the registry is Monday, November 7, 2016
Dr. Margaret Adam, MD, who is a member of the Mowat-Wilson Syndrome Foundation Medical Advisory Board, will serve as the primary scientific advisor for the MWS patient registry. Dr. Adam is Professor of Pediatrics, Division of Genetic Medicine at the University of Washington in Seattle, WA. Here is what Dr. Adam had to say about the registry.
“It is with great pleasure that I write this letter in support of the partnership between the Mowat-Wilson Syndrome (MWS) Foundation and the PEER platform. As a clinical geneticist, I have had the opportunity to both care for individuals with MWS and to participate in clinical research projects to help further our understanding of this condition. As is true for many rare genetic conditions, our ability to collect clinically relevant information that canhelp physicians provide excellent patient care is limited because each provider has only a small number of patients with the condition. Therefore, to further our knowledge of the breadth of the condition requires engagement of the involved community and a platform in which information can be securely and accurately entered and curated. This in turn will allow expert clinical researchers to extract important information and identify rare complications that will aid physicians who care for individuals with MWS. After reviewing the PEER platform, I feel that it is ideal for this endeavor. As a scientific advisor to the MWS Foundation, I look forward to working with them on implementing this platform and bringing it to the greater MWS community.”
PEER has received a number of awards and recognition including from the White House, Forbes Magazine and PCORI (the Patient-Centered Outcomes Research Institute).
Utilizing PEER to support our MWS patient registry provides some important benefits. Perhaps most important, it enables customization of sharing, privacy, and data access preferences. PEER puts decisions about sharing health information in the hands of parents or guardians. Some participants might decide to share everything with everyone, from medical records to contact information; while others might prefer to keep their data more private. PEER uses PrivacyLayer®, a technology service from PEER partner and technology provider Private Access, which allows individual decisions to be made concerning who can access their information. At present time, more than 30 communities and organizations are using PEER, and more than 10,000 people participate in it.
The process of participating in the MWS patient registry will be very user friendly. Each parent or guardian will be able to set up their own account. You will then enter health information through a number of different survey instruments. There is even a personal dashboard so you can track which surveys you have and have not completed. In addition, you have the ability to submit genetic test results and upload medical health records.
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 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.
For additional information, please contact Al Triunfo, Director, Mowat-Wilson Syndrome Foundation at firstname.lastname@example.org
https://mowat-wilson.org/wp-content/uploads/2016/08/genetic-alliance-logo-square.png5005004Foundationhttps://mowat-wilson.org/wp-content/uploads/2016/07/MWS-logo-final-340-1.png4Foundation2016-08-16 02:40:042016-10-05 01:17:45Mowat-Wilson Syndrome Foundation Awarded Grant Through Genetic Alliance