Written by Liz Rivera, TSF intern and currently a junior at Stockton University studying sociology and anthropology. Liz has a strong passion for helping people and hopes to connect people in need with support and resources to help them live healthily and succeed.
If you or a loved one has Turner Syndrome, many questions may go through your head. Whom do I contact for medical care? Whom do I speak to for support? What resources are available to me? Research is integral to ensuring there are answers to your many questions, and you can contribute to it in many ways!
One important way you can aid researchers is to join our collaborative research network with our friends at Invitae, called TSRX. This is a pin that allows you to submit information about your or your child’s experience with Turner Syndrome, all online.
How TSRX Helps Researchers
With data about the experiences of those who have Turner Syndrome, researchers can discover the best ways to care for Turner Syndrome patients, as well as aid them with improving their understanding of how Turner Syndrome progresses over time.
Furthermore, your data may help over 100 advocacy groups like us, along with reputable clinicians and researchers, to continue learning about the needs of this community.
Moreover, the TSRX pin supports pharmaceutical companies’ efforts to improve their treatments for conditions like Turner Syndrome.
Additionally, the overall data trends can be seen by others who are experiencing similar challenges like you or your loved one, as a guide to overcoming them!
How It’s Safe
After submitting your data, it becomes immediately anonymized for researchers using Invitae’s external database. In addition, you can update your data at any time.
Another simple way to support Turner Syndrome research is by joining the TSF Patient and Caregiver Registry. Additionally, if you joined before, you can update your information by submitting the form again.
The Impact of Joining the Registry
It is important for us at TSF to understand the needs of this community. By joining the registry, you allow us to learn about the challenges at the forefront so we may address them by implementing relevant programs and resources. Additionally, joining the registry allows us to provide you with personalized support to meet your expressed needs.
Another benefit of joining the registry is that you will receive updates from TSF about how to become an advocate for the Turner Syndrome community and the newest research opportunities and events TSF is offering.
How It’s Safe
This is why we strongly recommend that, once you sign up for the TSF Registry, you continually update it. When you update your registration, we are able to assess your changing needs across your lifespan to continue offering personalized support.
All data shared with the TSF registry is confidential. We want to ensure your personal information is safe, while also providing the resources that you specifically might benefit from.
Coriell Institute for Medical Research’s National Institute of General Medical Sciences (NIGMS) Repository
One last, very important way that you can aid researchers is by submitting your or your loved one’s blood or tissue samples to our friends at the Coriell Institute for Medical Research’s NIGMS Repository.
How It Supports Researchers
With these samples, Coriell can aid scientists in over 50 countries by providing them with the necessary material to conduct research to help improve their pharmaceutical and therapeutic treatments for genetic conditions like Turner Syndrome.
How To Help
All you need to do is:
- complete the form linked below to prove your eligibility and request that Coriell send you a collection kit;
- complete the informed consent, general submission, and clinical data summary forms;
- provide a skin biopsy and/or blood draw, or ask your physician to help with the collection; and
- use the pre-paid (by Coriell) FedEx label to return the kit with your sample, paperwork, and copies of relevant medical records.
How It Works
Once your data arrives, your cells are marked with a code, which makes it anonymous.
Coriell’s scientists will then control your cells’ growth by using a solution added until the total number of cells reaches a certain amount. This culturing creates a cell line. Scientists then freeze and store these cell lines for future use by the researchers.
If you wish, Coriell can remove your cell line from its data at any time. Additionally, you can also add to it by continually sending updated samples.
Overall, there are many opportunities you can pursue to help advance research on discovering new, innovative ways to understand Turner Syndrome and uncover the best treatments for people like you or your loved one.