On October 7th, 2023 the Mowat-Wilson Syndrome Foundation celebrated its 10th birthday. Our founding board was made up of 8 parents and grandparents of children with Mowat-Wilson Syndrome. Our mission was to enhance the lives of people affected by Mowat-Wilson Syndrome by providing family support, raising awareness, and supporting research and education.
We held our first conference in June of 2014. Doctors Mowat and Wilson attended. This was the first gathering for MWS families in the US. We received our 501(c)(3) designation shortly thereafter. We have held many regional events over the years that have allowed families to gather and enjoy time together with others who understand the journey.
In 2016 we launched the first patient registry for MWS. The information we gather provides much-needed information to researchers to better understand MWS and to target specific areas of research needed to ensure the best outcomes for patients.
In 2017 we held our second conference in Washington, D.C. This was a much larger gathering with many attendees traveling from abroad. In 2020 we held a virtual conference due to COVID-19.
In 2022 we awarded $143,000 in research grants through the Maci Whisner Research Grant. This year we are awarding an additional $50,000. We also introduced the Matrix patient tracking platform in 2022. This is now also the platform for our patient registry.
We are now planning for our next international conference, to be held in Minneapolis, MN, June 27th – 29th, 2024. We anticipate this will be the largest gathering, to date, for MWS families worldwide. We are busy planning a wonderful event. Of note, the recipients of last year’s grants will present their findings on the progress of their research. Please keep June 27th-29th open for this great event!
To celebrate our 10th anniversary, the foundation is working to establish an endowment to fund operations into the future. Funds will be used to support our mission.
SELECTED PROJECTS WILL BENEFIT INDIVIDUALS WITH MOWAT-WILSON SYNDROME
Las Vegas, September 1, 2022 — The Mowat-Wilson Syndrome Foundation (MWSF) announced today that it has awarded over $143,000 to selected research projects through the Maci Whisner Research Grant program. The awards will further the scientific understanding of Mowat-Wilson Syndrome (MWS) while enhancing and strengthening the lives of individuals affected by this rare genetic disorder.
The Maci Whisner Research Grant was established in memory of Maci Whisner, a child with Mowat-Wilson Syndrome who passed away in 2021. Maci suffered from many conditions and her medical needs were very complex. Her story has inspired hundreds of other MWS families to embrace life and live it to the fullest, despite any challenges they may face.
“Funding research has been a primary goal of the Mowat-Wilson Syndrome Foundation since its inception,” said Deborah Curry, president of MWSF. “We are thrilled that grants we are awarding today will advance treatments and greatly improve the quality of life for MWS patients.”
MWSF works diligently throughout the year to raise funds through special events and generous donations. A better understanding of MWS is essential to supporting individuals with MWS, their families, health professionals, and the greater MWS community.
“Our ability to provide grant funding is a critical component in attracting researchers,” said Al Triunfo, chairman of the MWSF research committee. “Their research in turn helps continue the growth of the MWS knowledge base, which contributes to a more promising future for individuals with MWS.”
2022 Recipients of the Maci Whisner Research Grant Awards, which were fully funded, include:
Examining neurological disability in Mowat-Wilson Syndrome using brain organoids
Researcher: Dr. Rebekah Charney, Ph.D., University of California, Riverside.
Genetic and cellular interactions in Mowat-Wilson Syndrome patients with and without Hirschsprung Disease
Researcher: Dr. Sumantra Chatterjee, Ph.D., NYU Grossman School of Medicine.
ZEB2 and Vocal Imitation
Researcher: Dr. Greg Gedman, Ph.D., the Regents of the University of California.
Epilepsy and MWS
Researcher: Dr. John M. Schreiber, MD, FAES, Children’s National Hospital, Washington, D.C.
MWSF strongly encourages interdisciplinary collaboration and the sharing of resources for MWS research. It is committed to sharing biospecimens, cell lines, animal models, and de-identified data, and any content resulting from research funded by MWSF must be made available to the public and, when possible, used to promote further discovery. MWSF endorses the principles embodied in “The Maintenance of High Ethical Standards in the Conduct of Research,” a policy statement issued by the Association of American Medical Colleges. All research funded by MWSF must follow U.S. National Institutes of Health Guidelines (or equivalent national guidelines in other countries) for the humane care and use of animals in research and for the use of human subjects in research. All funded research must comply with all local government regulations regarding the participation of human subjects and the use of animals in research.
About Mowat-Wilson Syndrome
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 individuals with Mowat-Wilson Syndrome are non-verbal and experience delayed development of motor skills such as sitting, standing, and walking. Despite their many difficulties, MWS children typically have a friendly and happy disposition, though they will require intense medical attention and personal care throughout their entire lives.
To learn more about the Mowat-Wilson Syndrome Foundation, please visit our website: www.mowat-wilson.org. Stay up-to-date on current events and information through our social media sites, follow us on: Facebook, Instagram, LinkedIn, TikTok and the MWSF Newsletter.
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.
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 can help 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 registry is scheduled to launch Monday, November 7, 2016. If you are interested in learning more about PEER, please visit http://peerplatform.org/ or contact Al Triunfo, Director, MWSF at email@example.com