In this video the strong links between fragile X syndrome and autism are discussed in a lecture format. http://www.youtube.com/watch?v=9lcu_SAz9WE&feature=relmfu
The following link is to an abstract of the original article describing the genetic aberration associated with Fragile X syndrome. http://www.ncbi.nlm.nih.gov/pubmed/2031184
Here is a link to a segment that aired on NPR about a potential drug treatment for Fragile X syndrome. http://www.npr.org/templates/story/story.php?storyId=94810949
Real Life stories of patients
Some interesting facts comparing and linking Fragile X syndrome and Autism Spectrum Disorders:
One of the world's leading Fragile X research labs - The Warren Laboratory at Emory University School of Medicine:
This NY Times article says that Novartis, a Swiss drug company, is developing a drug that helps improve behavior of adults affected with Fragile X. Unfortunately, the drug is in its very preliminary stages. The article also talks about the history and general information about Fragile X. http://www.nytimes.com/2010/04/30/health/research/30fragile.html
Also, this website shows more about the study that Novartis is running. http://www.clinicaltrials.gov/ct2/show/NCT01253629?term=fragile+x&rank=1
Katie Clapp, the executive director of the FRAXA Research Foundation, will be with us at the symposium addressing Fragile X. She is the mother of a kid with Fragile X and has made amazing contributions to promote research as a founder and director of an advocacy group. See a link to the foundation: http://www.fraxa.org/
Stephen Haggarty, has confirmed his participation in our symposium on Fragile X. Dr. Haggarty is Harvard faculty and director of chemical biology at the Broad Institute. He has extensive experience on drug development to modulate neuronal circuits like those affected in Fragile X. See a link to his lab website.
Fmr1 and fruitflies
A discussion of model organisms, including similarities in wildtype function of corresponding gene, and similarities in mutation:
[Fragile X syndrome and model organisms: identifying potential routes of therapeutic intervention]
Description of how the FMRP protein's role in translation and with miRNAs
This review might also be useful - A decade of molecular studies of fragile X syndrome.
Here's an abstract that discusses a model organism and how it illustrates the normal functions of FMR-1
Another article about using mice as a model organism.
The lab results regarding Fragile X were useful for looking at the mutations in relation to the functional domain. Also, just good information.
This mini review summarizes many studies' findings on the function of the FMR1 gene:
This abstract is helpful in identifying a successful pharmaceutical treatment for FXTAS in male permutation carriers.
this link is helpful for identifying FMR1 domains.
Fragile X handout: