One Drop 2024 -ATHN10, ATHN Dataset and ATHN Transcends Announcement
We want to thank you again for your participation in this valuable initiative that will continue to offer further insights and knowledge for diagnosis, care, and treatment for the ultra-rare bleeding disorders community!
Results have been released to all participants in ATHN at One Drop 2024. A huge thank you to Dr. Diane Nugent’s Hemophilia Advanced Diagnostics Laboratory (HADL). She has tirelessly fundraised to provide this testing free of charge.
Please look for emails on these dates from Cindy Manis at BayCare Tampa in your inbox or spam/junk. Emails were sent out on either 8/12/2025, 8/13/2025 or 8/26/2025. And for those patients that did not receive confirmation from their provider, s 2nd email was sent on 9/16/2025.
Your labs have been sent to the physician listed on your consent form. If you did not list a physician, your results will be sent directly to you via email from Cindy Manis. PLEASE do not contact her.
Please reach out only to me: jbrewer@ches.education if you have any questions or any of the following challenges:
-You have not received your results by October 24
-You have not received results from your referenced healthcare provider
-Your healthcare provider refused to share your results with you.
It is highly recommended that your results be reviewed with you by a genetic counselor. The following genetic counselors have made their services available:
- HTC Director of Western PA- Nicoletta (Niki) Machin (machinnc2@upmc.edu)
-Deborah Vehec is at their site and can be of assistance: dvehec@vitalant.org
Utilizing this resource https://dbdgateway.cdc.gov/HTCDirSearch.aspx, you may also reach out to a HTC in your area for assistance. It may involve a copayment.
Although previously suggested, you will NOT need to return to the Tampa HTC to have results reviewed, as you are encouraged to follow up with your HCP or the resources listed in this email.
As a reminder, CHES always prioritizes first time attendees to our programs. This enables us to connect participants to the great ultra rare community, and provide them with an opportunity to enroll in ATHN 10. We will collaborate with Drs. Cockrell and Nugent, as well as ATHN to make this service available again in 2025. We will offer virtual sessions throughout the weekend of November 14-16, 2025.
THERE IS NO COST TO PARTICIPATE IN THIS PROJECT.
CHES is partnering with ATHN under the direction of Dr. Tami Singleton, and the Tampa St. Joseph’s Hemophilia Treatment Center under the direction of Dr. Erin Cockrell to bring blood draws to One Drop to be included in the ATHN dataset for attendees willing to participate at the event.
About the study
CHES is a dedicated supporter of opportunities to bring research to our programs. We know first-hand how challenging it can be to access studies within your local hemophilia treatment center (HTC) if you utilize one.
The American Thrombosis and Hemostasis Network (ATHN) https://athn.org/ offers several national projects by partnering with HTC’s across the US for the purpose of genetic data collection that leads to better treatment outcomes. Two current projects include ATHN 10 and ATHN Transcends for the purpose of better understanding of ultra-rare disorders.
https://athn.org/what-we-do/national-projects/athn-projects-and-research-studies.html
-Genetic laboratory testing will be conducted by Dr. Diane Nugent’s Hemophilia Advanced Diagnostic Laboratory in Orange County, CA. Dr. Nugent is a world-renowned researcher and expert in ultra rare bleeding conditions. In 2017-2019, she conducted these studies at our ultra-rare conferences.
https://care.choc.org/dr-diane-nugent-profiled-leader-hematology/
-Your genetic results will be provided to the healthcare professional noted on your intake forms, not directly to you.
-It may take as long as 9-12 months for you to receive your results
-CHES will NOT have access to your results
WHY THIS IS IMPORTANT
Research is vitally important to those with an ultra-rare condition or for women with bleeding disorders as information is scarce. Additional research will accomplish the goal so many of you are looking for and what CHES continues to advocate for: accurate diagnosis, appropriate care and treatment. It is the only way we will be able to educate healthcare providers and product manufacturers of the ongoing needs of the ultra-rare and women’s communities. We hear ALL the time; we need more data and data is key. We know that genetic testing yields the best results for better treatment outcomes for those affected by ultra-rare bleeding conditions.
