Why should my loved one participate in patient research?
Updated: Mar 31
You may find the answer to this question is an obvious one: to advance science in order to cure DeSanto-Shinawi Syndrome. On the other hand, this question may only give rise to more questions, like what kind of research is being performed? What information is needed from me? How is my patient profile useful? Will blood or tissue samples need to be provided? Is my privacy protected? What is the likelihood this makes a difference?
Dr. Amanda Smith, member of The DESSH Foundation's medical advisory board and scientific researcher at Washington University, created a guide to help all of us understand why research is important. In the below guide, Dr. Smith summarizes different types of research participation and describes how your loved one's clinical patient data may be used.
Real opportunities exist..
Dr. Smith is currently developing a mouse model to study the WAC gene. She works in conjunction with clinician Dr. Marwan Shinawi. At this time, they are seeking DESSH patient data to identify where to focus their studies.
Patient data is needed to advance DESSH research efforts. The DESSH community is made up of some of the strongest, determined, most resilient (and sometimes candid!) parents I know. Our organization is entirely patient-led, and to find the best treatments for our children, the research must also be patient-led. It is my hope that you read the attachment "A Guide to Research Participation" above and that you will consider the impact we can have as a team dedicated to managing, treating and ultimately curing DESSH. Prior to any actual patient data collection, however, we felt it important to answer any questions you may have and address your comments or concerns.
Dr. Smith and Dr. Shinawi have agreed to host a mini-webinar and Q & A session on this topic on Wednesday, April 21st at 1:00pm eastern standard time. Please send your advance questions to firstname.lastname@example.org. The webinar will be recorded and available to all those who register but are unable to attend. Click to register now.
Many of you may have responded to a questionnaire by Dr. Shinawi in the early days of your diagnosis. We will continue using this questionnaire to collect patient data, however we have created a digital platform to better organize responses (link forthcoming). In order for your data to be used, a signed consent form must also accompany your completed questionnaire. Because a feature of DESSH syndrome includes facial dysmorphisms, photos are also beneficial. Should you wish to provide the research team with photos, a media authorization must also be completed. At a later time, the opportunity may arise to provide patient blood and/or tissue samples for testing as well. Separate consents would then be provided.
While we are not asking for any responses now, a copy of the paper form questionnaire and consent forms has been provided for your review.