Many of you probably know me as a researcher who studies autism and/or Ehlers-Danlos syndromes. However, I also study a related spectrum of conditions known as Fragile X Syndrome and Fragile X Premutation. I am actively recruiting for an ongoing study investigating certain medical issues in women with the premutation in the hopes we can learn more about how often these conditions are occurring in this population, whether they are associated with certain genetic variations (repeat numbers), and ultimately how we can better improve the quality of life of premutation carriers.
If you are able to travel to the New Orleans, LA, or Greenville, SC, areas and are interested in learning more, please reach out to me at the email address listed below.
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Study: Medical Issues in Women with Fragile X Premutation
Location: Loyola University, New Orleans, Louisiana; Greenwood Genetic Center, Greenville, South Carolina.
The Casanova Laboratory is investigating specific medical issues in adult women with fragile X premutation.
What’s the purpose of this study?
We’re studying the frequency of certain medical issues in the female premutation population in order to bring better recognition to underdiagnosed and undertreated conditions.
What will you be asked to do?
You will be asked to come to Loyola University, New Orleans, or Greenwood Genetic Center in Greenville, SC, and undergo a painless physical assessment and interview. It will last about an hour.
Who are we looking for?
Adult women with fragile X premutation who can travel to Loyola or Greenwood Genetic Center.
How will this benefit me?
We hope this will lead to better treatment of underrecognized medical issues in carriers, which may affect you.
Who do I contact if I’m interested?
You can contact the principle investigator, Dr. Emily Casanova, at email@example.com for more information.