Naked Science Forum

Life Sciences => Physiology & Medicine => Topic started by: Mariana on 12/02/2019 15:39:25

Title: Is there a cure for Angelman Syndrome on the horizon?
Post by: Mariana on 12/02/2019 15:39:25
Alex wants to know:

Is there a repair, treatment, or cure on the horizon for Angelman Syndrome? Iíve heard Japan has been doing research along these lines. Do you know if there is tangible hope looming anywhere?

Can you help?
Title: Re: Is there a cure for Angelman Syndrome on the horizon?
Post by: evan_au on 13/02/2019 20:25:47
Angelman syndrome is caused by loss of part of chromosome 15 during development as an embryo.
- This results in loss of many functional genes and regulatory functions, so there won't be a single medication that could compensate for this.
- Since the degree of loss will vary between individuals, the ideal treatment will vary between individuals.
- A lot of the damage is done before birth, so treatment after birth will not fully reverse all the symptoms

It is the complexity of the syndrome that has prevented an effective treatment to date.
See: https://en.wikipedia.org/wiki/Angelman_syndrome