Tag Archives: Newborn Screening

Episode 26: The Road to Newborn Screening in TSC



In Episode 26 of TSC Now, host Dan Klein takes a deep dive into one of the newer and exciting frontiers in TSC research: Newborn Screening. Last Fall, the TSC Alliance hosted an Innovation Workshop that brought together TSC researchers, newborn screening experts and other nonprofits with experience advocating for other diseases to be included in the newborn screening panel to start to set the road map forward. From that meeting the TSC Alliance put a call out to our community for dried blood spots from infants with TSC in certain states to help eventually validate an assay and earlier this month we put out a call for proposals to fund research to start developing that assay. To understand where we need to go and what will be necessary to get tuberous sclerosis complex added to the recommended uniform screening panel (RUSP), Dan spoke to two people who helped organize the Innovation Workshop.

First, Dan spoke to Hope Northrup, MD (01:42), Director of the Division of Medical Genetics, Professor in the Department of Pediatrics, and TSC Clinic Director at the McGovern Medical School at the University of Texas Health Science Center at Houston. Drawing from an impressive career in both TSC and newborn screening, Hope provides a history of newborn screening both in general and in the United States, what they key tenets are to determining whether a disease should be included on the RUSP, and ultimately what the clinical and research benefits are to having TSC included.

Next, Dan spoke to TSC Alliance Chief Scientific Officer Steve Roberds, PhD (23:31), to better understand how newborn screening fits into the larger research efforts of the organization, what steps we have taken to date to move this process forward, and what potential hypotheses we are hoping to test through new research funding. Steve also shares what the timeline and next steps are for both researchers and advocates once an effective and sensitive assay is in place.

The TS Alliance is Seeking Historical Dried Blood Spots and Cord Blood from Individuals with TSC for Newborn Screening Assay Development. Was your child with TSC born in Michigan, New York, Texas, or California? The TSC Alliance is actively seeking access to newborn dried blood spots and stored cord blood from babies born after 1985. If you are interested in donating samples that are potentially stored in your state to the TSC Alliance, please email biosample@tscalliance.org.

The TSC Alliance also recently announced a new funding opportunity for Newborn Screening (NBS) Assay Development. If you are a researcher interested in learning more about this opportunity and submitting a letter of intent you can learn more at www.tscalliance.org/grants. The deadline to submit an LOI is Monday, August 23.

Resources and Links


Episode 9: The State of the TS Alliance



In episode 9 of TSC Now, host Dan Klein talks to Tuberous Sclerosis Alliance President and Chief Executive Officer Kari Luther Rosbeck. They discuss her favorite memories from the organization’s 45th anniversary year in 2019, the major goals and initiatives for the organization in 2020, the newest members of the team, and upcoming events at the TS Alliance. Be sure to sign up for the TS Alliance bimonthly e-newsletter, TSC Matters, to stay up-to-date on everything going on at the TS Alliance throughout the year. You can subscribe to TSC Matters at https://www.tsalliance.org/tsc-matters/.

Want to submit a future episode topic for consideration? Send us an email at tscnow@tsalliance.org.

Upcoming Events

  • March on Capitol Hill, TS Alliance Board and Endowment Board Meeting, and Volunteer Leadership Summit – March 3-5, 2020 in Washington, DC.
  • First Step Forward to Cure TSC Walk – Saturday, April 4, 2020 in AZ.
  • Comedy for a Cure 2020 – Sunday, April 5, 2020 in Los Angeles, CA. Learn more: https://tsalliance.schoolauction.net/comedy2020/
  • Sound Bites Minnesota – Friday, May 8, 2020 in Golden Valley, MN.
  • Newborn Screening Workshop – June 2-3, 2020 in Silver Spring, MD.
  • Regional TSC & Lam Conferences (dates tentative and subject to change)
    • June 20, 2020 – Memphis, TN
    • September 26, 2020 – Gainesville, FL
    • October 24, 2020 – Denver, CO

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