FRAGILE X SYNDROME

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

http://www.youtube.com/watch?v=-6-J_YcVRi4

Care:

http://www.wellness.com/reference/conditions/fragile-x-syndrome-fxs/prevention-and-treatment

Some interesting facts comparing and linking Fragile X syndrome and Autism Spectrum Disorders:

http://www.fragilex.org/html/autism_and_fragile_x_syndrome.htm

One of the world's leading Fragile X research labs - The Warren Laboratory at Emory University School of Medicine:

http://genetics.emory.edu/labs/index.php?link=Home&lab=22&page=106

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.

http://chemicalbiology.mgh.harvard.edu/labs-haggarty.htm

Fmr1 and fruitflies

http://www.sciencedaily.com/releases/2008/03/080309151235.htm

A discussion of model organisms, including similarities in wildtype function of corresponding gene, and similarities in mutation: 

http://dmm.biologists.org/content/3/11-12/693.full.pdf+html.

[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

http://www.nature.com/neuro/journal/v7/n2/full/nn1174.html

This review might also be useful - A decade of molecular studies of fragile X syndrome.

http://www.ncbi.nlm.nih.gov/pubmed/12052912?dopt=Abstract&holding=npg

Here's an abstract that discusses a model organism and how it illustrates the normal functions of FMR-1

http://www.ncbi.nlm.nih.gov/pubmed/8490651

Another article about using mice as a model organism.

http://www.ncbi.nlm.nih.gov/pubmed/8033209

The lab results regarding Fragile X were useful for looking at the mutations in relation to the functional domain. Also, just good information.

http://www.aruplab.com/Testing-Information/resources/TechnicalBulletins/Fragile%20X.pdf

This mini review summarizes many studies' findings on the function of the FMR1 gene:

http://onlinelibrary.wiley.com.ezp-prod1.hul.harvard.edu/doi/10.1034/j.1399-0004.2001.600601.x/pdf

This abstract is helpful in identifying a successful pharmaceutical treatment for FXTAS in male permutation carriers.

http://www.ncbi.nlm.nih.gov/pubmed/19471185

this link is helpful for identifying FMR1 domains.

http://www.nature.com.ezp-prod1.hul.harvard.edu/ng/journal/v3/n1/abs/ng0193-36.html

Fragile X handout:

Fragile X.pdf