At the end of last year, after an application from Dr Bryn Webb, Associate Professor in the Division of Genetics and Metabolism at the University of Wisconsin-Madison – who has attended and spoken at our last two conferences – applied for a year long project grant for some Moebius Syndrome research. The project will run through 2026.
In the initial stages, Dr Webb has been working on control samples- twin samples, healthy individuals, and 6 persons with Moebius syndrome. The focus has been on optimizing and fine-tuning the analytic pipeline before moving to expand testing to additional individuals with Moebius syndrome to ensure the method is robust
Going forward, Dr Webb is keen to determine how she can enrol participants and get saliva samples collected from the UK, and we will be in discussion with her about this. In addition to saliva samples, there will be a need high-quality eye movement videos for careful phenotyping. The aim is that the UK participation will be completed by mid summer.
Ultimately the aim is to learn more about possible etiologies of Moebius (or exclude possible hypotheses).