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Research

Scientists across the world are working towards greater discoveries to impact quality of life through translational research to integrate advancements in molecular biology with clinical trials, taking research from the bench-to-bedside.

Since its inception in 2009, TSF has supported research initiatives by referring families affected by TS to participate in studies at such pioneering facilities as Stanford Center for Interdisciplinary Brain Science Research, Nemours Children’s Hospital, the National Institutes of Health, University of Chapel Hill, Rush University, Coriell Laboratories/NGIMS and JS Genetics Laboratories.

Research is a Team Effort
Disparity in Research
New Diagnostic Tool
Education Before Participation
Newborn Screening
How You Can Help
Finding a Trial That is Right for You

Turner Syndrome Research is a Team Effort

Patients can actively contribute to new science by LEARNING how they can contribute to clinical research. In an effort to expand new science a patient registry has been established. Contact Dr. Danielle Moore, PhD at dmoore@tsfusa.org with any questions.

Patient Study (Over 18 years)
There is a significant need for further research focusing on psychosocial difficulties girls and women (18 years or older) with Turner syndrome (TS) may experience, which will provide important information to the medical community. A collaboration between the Turner Syndrome Foundation and the Genetic Counseling Department at Arcadia University is investigating possible social anxiety that women with TS have experienced as well as exploring various factors that may be associated with increased social anxiety. This study is particularly focused on finding the prevalence of social anxiety in women with TS and how factors such as age at diagnosis, first presenting symptoms, and general outlook on life may be associated with increased social anxiety.
 
This study can be completed through an online survey that is conducted through SurveyMonkey. You are eligible to participate if you are an adult (18 years or older) with a personal diagnosis of Turner syndrome. If you are interested in participating in this IRB approved study, you may access the online survey through this link:

https://www.surveymonkey.com/s/DGRJZQ2


Caregiver Study for Children 18 years and under
There is significant need for a comprehensive and descriptive database of girls and women with Turner syndrome (TS), which would provide an important medical resource to primary care physicians, endocrinologists and genetic counselors.  A collaboration and partnership of the Turner Syndrome Foundation and the Genetic Counseling Department at Arcadia University is investigating the process of diagnosis that girls with TS have experienced as well as exploring the prevalence of potential cognitive symptoms in TS, including learning disabilities, through an online survey. Particularly, this study is focused on finding the prevalence of delayed diagnosis in girls with TS and how these specific symptoms may or may not be frequent enough to influence the process of diagnosis for girls with TS.

This study can be completed through an online survey that is conducted through SurveyMonkey. This survey can be completed by a parent/guardian of a child with Turner syndrome. If you are interested in participating in this IRB approved study, you can access the online survey through this link:
https://www.surveymonkey.com/s/Z9R3DYX

Online Patient Registry
The Turner Syndrome Foundation is also currently organizing an online registry to learn more information about its members. If you are interested in signing up for this registry, you can access the registration form through this link:
https://www.surveymonkey.com/s/GVX6FTH
The information obtained from the registry will be kept separate from any information submitted through the survey. 

Discussing Infertility with Girls who have Turner Syndrome Survey:
Hi, my name is Jessica King, and I am a student in the Master’s in Genetic Counseling Program at the University of Maryland, Baltimore. With collaboration and help from the Turner Syndrome Foundation, we are recruiting individuals for our research project and would really appreciate your help! It is an online survey for parents (or caregivers) who have a daughter with Turner syndrome.
Please click the link to participate: https://www.surveymonkey.com/s/DL9P9BJ
 


Disparity in TS Research
One factor contributing to slow progress in Turner Syndrome may be the relatively modest research funding currently allocated to this condition. No current NIH-funded extramural animal or basic science award is expressly focused on TS and this disparity is also highlighted by a recent 2010 Institute of Medicine report that emphasizes the need for new research expressly focused on women's health issues.



A New Diagnostic Tool
In March of 2011, a new and convenient test for diagnosing TS, the XCAT-TS, was introduced by JS Genetics after significant patient participation in their NIH funded study.  The test can be administered by physicians and requires only a check swab; results can be available within 3 days of sample receipt at JS Genetics labs.  In clinical practice this test will detect 98% of girls with the condition.  A recently validation study for this test has been published  J Clin Endocrinol Metab. A highly sensitive, high-throughput assay for the detection of turner syndrome.  2011 Mar;96(3):699-705.

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Participate in Research

EDUCATE BEFORE PARTICIPATION
The top five reasons people participate in research studies:
- To advance medicine: 51% 

- To find a better treatment for my condition: 46%

- To help others with my condition: 39%

- To earn extra money: 36%

- My doctor recommended it: 31%

The Importance of Children in Clinical Studies Video
Why Clinical Studies are Important Video
Safety and Protection Video
Rights of Families in Studies Read
You Can Say No At Any Time Video
Minority Interets and Questions Video
The Research Team Video
Good Questions to Ask Video
The Cost of Participation Video
Do Children Get to Consent Read
Effect on the Family Video
What Children Say About Being in a Study Video
Leaving a Study Video
When a Study Ends Video
How to Find Reliable Information Video
Searching Clinical Trials Video
Related Materials Read
Understanding clinical trials - U.S. National Library of Medicine frequently asked questions.



FINDING A CLINICAL TRIAL THAT IS RIGHT FOR YOU

Clinicaltrials.gov Search completed and actively recruiting studies
.
  • Comprehensive Longitudal Study at Center for Interdisciplinary Brain Sciences Research at Stanford University Information Flyer
    • Recruiting: Girls 9 to 14 years old
    • Participation may involve: neurosychological evaluations, blood test for genetic analysis, brain imaging
    • Potential benefits of participation include furthering our understanding of leaarning, genetics, and brain development
    • Families will receive $150 honorarium for participating
    • Written report provided, including results of a neuropsychological evaluation
    • Research study will reimburse related travel and meal costs for participants
      • Contact Annaliesa Koch or Lindsay Chromik at stanfordbrain@staqnford.edu or (650)724-2939
  • NIGMS Repository at Coriell Institute for Medical Research "Banking for the future by donating a sample to a cell repository is an investment that has the potential to greatly accelerate, improve and advance scientific research on Turner syndrome." 
    • Request a blood collection kit by contacting
      Tara Schmidlen, MS, CGC at 856-757-4822
      or tschmidl@coriell.org
    •  Letter   Information Flyer 


Newborn Screening

Centers for Disease Control on Newborn Screening
Learn about newborn screening. Watch the Newborn Screening Video
Learn about newborn screening bloodspot - About Bloodspot 
Learn what your state screens for - State Screening


There are ways you can help:



  • 
Educate yourself to make an informed decision before participating in a study. Assess if the study is right for you.

  • Join the patient registry
  • Participate in a study in which you qualify. 
  • Donate to show your support of our mission!