National Fragile X Center at Emory

Congrats to Kate Shelly on her recent publication! Kate is a postdoc that joined our group last year after finishing her PhD in the lab of David Nelson at Baylor. She uses mouse models to study fragile X-associated primary ovarian insufficiency (FXPOI). We are so excited that she joined our research team at the National Fragile X Center at Emory!

Congratulations to Dr. Emily Allen for winning the Hagerman Award for Groundbreaking Research on Fragile X Associated Disorders!! We are so proud to have her on our Emory team!!

The Emory team had a great week in Israel at the International Conference on FMR1 Premutation! We always enjoy hearing about the amazing fragile X resesarch happening around the world.

The Emory team had a great week in Israel at the International Conference on FMR1 Premutation! We always enjoy hearing about the amazing fragile X resesarch happening around the world.

We are excited to celebrate #RareDiseaseDay with our fragile X family! Hope you enjoy this wonderful blog post from a member of our fragile X community at Cincinnati Children's Hospital Medical Center.

Happy Thanksgiving, Fragile X Family! We are so thankful for all of you and the support you have given us over the years.

Happy Wednesday! Today's FX-MOD update focuses on the FXPOI arm of the project! We are making great progress, but still need to hear from women who are pre-mutation carriers who have FXPOI AND women who are pre-mutation carriers who do not have FXPOI. If this describes you or someone you know, we'd love to hear from you!

Happy Wednesday! This week's update focuses on the seizures in fragile X syndrome arm of the FX-MOD study! We are still looking for individuals with FXS who have seizures AND individuals with FXS who do NOT have seizures. We'd love to share more information with you! Just give us a call.

Happy Halloween! We are celebrating by introducing our newest feature: "Meet the Team Monday!" These short segments will give you the opportunity to learn more about the research team at Emory University and put a face to a name. We begin our series with Stephanie Sherman, PhD. Dr. Sherman has been involved in fragile X research since 1983. 1. What is your research focus? My research focuses on identifying genes and environmental factors the explain why some individuals... who carry the fragile X mutation have a severe presentation of the specific disorder (fragile X syndrome, FXTAS or FXPOI) while others show no or very mild symptoms. We think that once we identify these genes and how they work with the fragile X mutation, we will have a better way to predict who will have symptoms and when. We also might be able to better identify possible treatment targets. 2. What is your role with the FX-MOD project? As co-Director of the FX-MOD project, I have the opportunity to do work with everyone on the team and with our Center sponsor, the National Institutes of Health (NIH), to make sure things run smoothly. I am also responsible for the FXPOI project and advise a graduate student who is learning to analyze the complex data and use the fly model to investigate which genes interact with the fragile X premutation. 3. What do you like to do for fun? My favorite thing to do is travel. I just returned from Prague in the Czech Republic where I gave a talk to the International Menopause Society about FXPOI. I spent some extra days traveling around the area with my friend, Karen. Here we are in Cesky Krumlov, a wonderful castle city that still looks and feels like a Medieval town. Lots of fun!

Sorry for the quiet around our page! We have been busy speaking with so many of you! Thank you for all of your enthusiastic support of the Modifiers of Fragile X-Associated disorders (FXMOD) study. We wanted to use the next few weeks to share updates about recruitment for each arm of the project. This week's update is about the FXTAS arm. We are still looking for participants, so if you haven't reached out please do!

Happy Wednesday, everyone! You might remember that one of the goals of our new Modifiers of Fragile X-Associated Disorders (FX-MOD) study is to better understand seizures in individuals with fragile X syndrome. In order to do this, we need participants who have had seizures as well as those who have not. This week our research focus is on males with fragile X syndrome who have NEVER had a seizure. Please contact us if this describes you or your loved one!

This Wednesday our featured project of the Modifiers of Fragile X-Associated Disorders (FX-MOD) studies is for women who carry the premutation and went through menopause at 50 or older! If you carry the fragile X premutation and did not have FXPOI, please consider helping advance fragile X research by participating. Don't hesitate to reach out to us with any questions regarding this project!

It's that time again! Every Wednesday we will feature a different aspect of our Modifiers of Fragile X-Associated Disorders (FX-MOD) studies. This week our focus is on women who experienced FXPOI. Please help advance fragile X research by considering participation in this project if this describes you! If you have questions regarding any aspect of our project, don't hesitate to reach out!

It's Wednesday again! Help advance fragile X research by participating in one of our new Modifiers of Fragile X-Associated Disorders (FX-MOD) studies. Every Wednesday we will feature a different aspect of this project. This week our focus is on males who carry the premutation. If you have questions regarding any aspect of our project, don't hesitate to reach out!

Happy Hump Day everyone! Every Wednesday we will feature a different aspect of our Modifiers of Fragile X-Associated Disorders (FX-MOD) study. This week our focus is on individuals with FXS who have experienced seizures. If you have questions regarding any aspect of our project, don't hesitate to reach out!

We're so excited to be at the 15th International Fragile X Conference! Please come by and say "Hello" if you are here too!

We hope everyone Stateside is having a wonderful 4th of July with family and friends!