The Moebius Syndrome Foundation is thrilled to announce that research funded by the Foundation has been published in the prestigious Nature Genetics research journal.
The genetics researchers from Boston Children’s Hospital, the National Institutes of Health, and the Icahn School of Medicine at Mount Sinai partnered with the Moebius Syndrome Foundation with the aim to learn more about the causes of Moebius syndrome and related facial weakness conditions.
The researchers used a technique called whole genome sequencing to look for changes in DNA that may cause facial weakness. The researchers found that isolated facial weakness can result from changes in the DNA in the ‘dark matter’ of our DNA, between genes rather than in genes, and discovered how these changes increase the amount of protein made by a nearby gene named GATA2, resulting in failure of the facial nerve (Cranial nerve 7) to develop. Importantly, individuals with these DNA changes have full eye movements and hence do not meet the diagnostic criteria for Moebius syndrome (which is facial weakness and limited movement of the eye(s) outward).
This study is very important for the Moebius syndrome community as it increases our understanding of what genes are needed to be turned on and turned off for the facial nerve to develop and work properly.
We congratulate lead authors Alan Tenney, PhD, Ale DiGioia, PhD, and Bryn Webb, MD, and the senior author who led the study, Elizabeth Engle, MD.
A live report will be given about these research findings at the upcoming Moebius Syndrome Foundation Conference in Minneapolis. Attendees will be able to ask questions, and the event will be recorded so that those not in attendance can view afterwards.
We would like to thank all the researchers and their support teams, the many people and families with Moebius syndrome or a related condition who volunteered to participate, and our incredible donors who made this large study possible.
Read the full report here.