i admit i had never heard of this when i got a communication from an old friend from my childhood whose grandson has been diagnosed with Angelman's syndrome. is anybody out working on this? which is gene or genes are involved? are we close to gene editing, or purposeful cultivated RNA transcription on this?
how can i help my friend? thanks in advance. Elizabeth Gilley
Elizabeth Dale Gilley - I can't answer all of your questions but I thought you might find the Angelman Syndrome section of the FIND website useful as a starting point for your research and as a way to support your friend: https://findresources.co.uk/the-syndromes/angelman. The content is currently being peer-reviewed and a new FIND website is being launched soon, so please return to the website in the New Year for the most up-to-date information. I hope this answer is helpful.
The Angelman syndrome gene, UBE3A, is at chromosome 15. Some genes on the chromosome are turned on or expressed and others are turned off or silent. Normally the UBE3A gene from our father is silent & the UBE3A gene from our mother helps our brain develop. Unfortunately, in Angelman syndrome, there is a problem with the UBE3A gene from the mother and the brain can't get the information needed to develop & control speech, movement & learning. All of these actions in the chromosomes happen during fetal development, as part of a person’s genetic structure. If UBE3A gene does not function normally, the individual gets Angelmansyndrome. Expert scientists are trying to study the UBE3A gene as much as possible to discover ways to cure or at least to treat...
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