Today (10th October) is International Fragile X Day. The SIDB and PWC work on this genetic condition, and we have filmed a series of clips of our researchers, explaining a little bit about their research! Find all the videos below:
What is Fragile X syndrome?
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disabilities worldwide and is often associated with anxiety, autism and ADHD. At present, there are no specific treatments for FXS.
Fragile X syndrome is a genetic condition that occurs when a single gene on the X chromosome shuts down. This gene makes a protein needed for typical brain development. In FXS it does not work properly, the protein is not made, and the brain does not develop in the way it usually does.
FXS can affect both sexes. Females generally have milder symptoms than males, although there is a lot of variation and no good way to predict this. While most males have intellectual disability, only one-third of females have marked intellectual challenges, although specific learning difficulties are fairly common. Maths is often a particular challenge for females. Both boys and girls may have delays in learning to speak, but most individuals with Fragile X are verbal. Emotional and behavioural problems are common in both sexes.
The PWC and SIDB
The Patrick Wild Centre (PWC) and Simons Initiative for the Developing Brain, are clinical and fundamental research centres that sit within the University of Edinburgh. Their mission is to understand the neurological basis of and to test new therapies for single gene conditions which affect brain development, such as fragile X syndrome (FXS) SYNGAP1 haploinsufficiency and CDKL5 deficiency disorder (CDD).
Andy Stanfield – Clinical Research with Fragile X
Beatriz Maio – Gene Therapy Approach
Susana Louros – Protein Turnover in Fragile X Syndrome
Matt Nolan – Learning & Memory in Fragile X Syndrome
Please get in touch if there’s anything else you’d like us to feature in future videos!
