Newborn Screening Translational Research Network (NBSTRN)

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Newborn Screening Translational Research Network (NBSTRN)

Goals of the NBSTRN:

The basic goals of our work are established by the NICHD contract.

The Newborn Screening Translational Research Network (NBSTRN) is funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH). For conditions in newborn screening, we will develop a system in which long-term follow-up and outcome data can be collected by providers and be used for several purposes including developing the

clinical history of the treated disease, some of which can be 1) made available in some form to newborn screening programs as a means of evaluating the success of their screening programs and 2) the basis on which next generation treatments might be evaluated. For conditions that are considered candidates for NBS we will develop a system in which the clinical histories can be defined and in which clinical trials can be pursued. This program is aligned with the research and investigational interests of the NIH and is focused on achieving many of the activities discussed above. Among the initial activities of the NBSTRN will be to develop resources that facilitate the ability of researchers to become involved in this important area.

09/25/2023

We give special thanks to our members at NBSTRN. We appreciate all of you - health professionals, researchers, parents and advocacy organizations, and State NBS programs - for advancing Newborn Screening (NBS) research!

Learn more about each other in the NBS community: 1) watch the replays of the presentations from our previous Network Meetings and NBS Research Summit on our NBSTRN YouTube Channel, and 2) listen to our members' stories on our Newborn Screening SPOTlight podcast. To learn more, visit our website at www.nbstrn.org.

09/20/2023

2023 NBS Research Summit Presentations Now Available! - https://mailchi.mp/nbstrn.org/nbstrn-quarterly-update

09/08/2023

You’re invited to the 2023 NBSTRN NBS Research Summit, which is virtually held from September 13-14, 2023 from 12-4pm (EST)!

The Newborn Screening Translational Research Network (NBSTRN) is marking this significant milestone with a two-day virtual meeting with the theme: “Setting the Stage for a Lifespan Approach to Rare Disease: Novel Approaches from Around the World.”

Join us for this celebratory free event. Please register at https://data.nbstrn.org/surveys/?s=HY79FRTLLEAMYPHW

The speakers and topics are listed below (and times in EST):

Wednesday, September 13, 2023 from 12-4pm (EST)

12-1pm: Jimmie Ye, PhD, from Department of Medicine, Rheumatology, University of California, San Francisco will present “Genome-wide prediction of disease variant effects with a deep protein language model.”

1-2pm: Cynthia Morton, PhD from Brigham and Women's Hospital, Harvard Medical School will present “Burden and Benefits of Knowledge: Insights from SEQaBOO.”

2-3pm: Chun-Hung Chan, PhD from Sanford Health will present “Needle in a Haystack: Challenges in Identifying and Diagnosing Rare Diseases.”

3-4pm: Claudia Gonzaga-Jauregui, PhD from International Laboratory for Human Genome Research National Autonomous University of Mexico (UNAM) in Mexico will present “Challenges and Opportunities for Newborn Screening in Latin America.”

Thursday, September 14, 2023 from 12-4pm (EST)

12-1pm: Mei Baker, MD, PhD from University of Wisconsin, Madison and Wisconsin State Public Health Department will present “Development and Validation of a Newborn Screening Test for Angelman Syndrome.”

1-2pm: Zohreh Talebizadeh, PhD from American College of Medical Genetics and Genomics will present “Bridging the Gap Between Genetics & Patient-Centered Research.”

2-3pm: Edward Neilan, MD, PhD from National Organization for Rare Disorders will present “NORD Rare Disease Centers of Excellence.”

3-4pm: Antonio Capalbo, PhD from Juno Genetics will present “Preconception Genome Medicine: Current State and Future Perspectives to Improve Fertility Diagnosis and Reproductive and Health Outcomes based on Individual Genomic Data.”

Join us as we celebrate these important milestones and highlight the role of advocacy and research.

Please share this event with your colleagues. Learn more about NBSTRN NBS Research Summit at https://nbstrn.org/2023-nbs-research-summit

08/15/2023

NBSTRN ELSI Research Needs Survey 2023 - https://mailchi.mp/nbstrn.org/nbstrn-elsi-research-needs-survey-2023

05/18/2023

Join us today for the NBSTRN Network Meeting, May 18-19, 2023 from 12-4pm (EST)! We have a fantastic line-up of topics on the advocacy and research on advancing newborn screening research. Register at https://nbstrn.org/2023-network-meeting

02/28/2023

Happy Rare Disease Day on Feb 28, 2023! We are thrilled to have Annie Kennedy who has over three decades of experience in advocacy work on our Newborn Screening SPOTlight Podcast!! Annie is a veteran leader in the rare disease patient advocacy movement, who joined the EveryLife Foundation for Rare Diseases Foundation in 2018, where she led the National Economic Burden of Rare Disease study, the development of the ICD Code Roadmap, and the community-driven Guide to Patient Involvement in Rare Disease Therapy Development. Annie previously held leadership roles at Parent Project Muscular Dystrophy (PPMD) and Muscular Dystrophy Association (MDA). She is a sought-after advisor to patient-centered organizations and initiatives across the nonprofit and government sectors. If you are new to advocacy work or a seasoned advocate, become inspired by Annie’s story to carry forward despite the road to advocacy work is non-stop, exhausting and at times, bumpy with many ups and down. Join this collective energy to advocate for rare diseases research.

You can listen to the Newborn Screening SPOTlight podcast on our website at https://nbstrn.org/podcast and the podcast is also available on Apple Podcast, Spotify, Google Podcast, Amazon Music, and iHeartRadio.

12/21/2022

isten along with us as Natasha Bonhomme, Chief Strategy Officer at Genetic Alliance and Founder of Expecting Health, shares advice on how to engage families and educate the next generation of advocates to help speed research to develop new technologies to screen, diagnose, treat, and manage diseases. Newborn screening saves lives and leaders like Natasha help make it possible! Listen to the Newborn Screening SPOTlight podcast at https://nbstrn.org/podcast

11/23/2022

November is a special month, beside the time for Thanksgivings. November is the month of Family History Awareness as well as Genetic Counseling Awareness. We are excited to have Sylvia Mann share her story on the Podcast! She is a genetic counselor and Supervisor of the Genomics Section of the State of Hawaii Department of Health, the Co-Director of the University of Hawaii Pacific Basin Telehealth Resource Center, and Project Director of the Western States Regional Genetics Network.

Sylvia’s decades of empowering parents, families, patients, and advocates from diverse backgrounds, she lives in Hawaii after all, has resulted in professional with a rare combination of genetic expertise, sincere empathy, and a tireless work ethic that has resulted in important conversations and discussion of diversity, equity, inclusion, and justice taking place.

https://nbstrn.org/podcast

11/19/2022

Please join us for the Inaugural Harvey Levy Newborn Screening Symposium on Thursday December 8th from 8:15am to 5pm EST via Zoom, titled: “Newborn Screening in the United States – the Past, Present and Future”

Please click the link below to join the webinar:

https://lnkd.in/e8KVPsfg

Webinar ID: 944 4865 9022
Passcode: 290879

10/27/2022

Listen to the new podcast episode with Dr. Zhanzhi Hu, who is the co-founder and President of Project GUARDIAN and chair of workgroup, on research & advocacy for newborn screening for Mucopolysaccharidosis II (MPS II/Hunter Syndrome). https://nbstrn.org/podcast

10/17/2022

Are you attending the 2022 APHL NBS symposium in Tacoma, Washington? or watching the session online? Visit our booth #101; stop by our posters and attend our sessions to learn more about NBS research and NBSTRN data tools and resources.

APHL NBS Symposium October 2022

ROUNDTABLE DISCUSSION (n=1)
• Title: Supporting Public Health Program Incorporate Newborn Screening Long- Term Follow-Up
Authors: Jennifer Taylor, Jennifer Baysinger, Carol Johnson, Amy Burke, Jennifer Hauser, Jo Ann Bolick, Kee Chan, LaStephanie Barnes, Yekaterina Unnikumaran, Amy Brower

ORAL PRESENTATION (n=2)
• Title: Putting Families First: Innovative Approaches of Long-Term Follow-Up Cares and Check Initiative (LTFU-Cares & Check)
Authors: Kee Chan, Natasha F. Bonhomme, Jennifer Taylor, Yekaterina Unnikumaran, Ian F. Terry, Sharon F. Terry, Amy Brower

• Title: Reimaging Newborn Screening Pilots: Models, Mining and More
Authors: Amy Brower

POSTER PRESENTATION (n= 5)
• Title: The Potential for Newborn Screening to Transform Disease Understanding Through Data Retention and Sharing
Authors: Amy Brower

• Title: ELSI Advantage: A Resource for the NBS Community to Facilitate Inclusion of ELSI in Newborn Screening Research
Authors: Caroline Lumpkins, Kee Chan, Amy Brower

• Title: Data Science and Autism: Exploring the Use of Newborn Screening Data to Understand Genetics and Clinical Outcomes
Authors: Zohreh Talebizadeh, Caroline Lumpkins, Amy Brower

• Title: Celebrating a decade of conversations to facilitate newborn screening pilots: NBSTRN National NBS Pilot Monthly Webinar
Authors: Jennifer Taylor, Kee Chan, Amy Brower

• Title: What Does NBS Research Mean to You? Stories from the NBSTRN SPOTlight Podcast
Authors: Kee Chan, Yekaterina Unnikumaran, Amy Brower

09/29/2022

Join us today for our NBS Research Summit! Learn from Yvonne Carroll on Informed Consent for Sickle Cell Disease Gene Therapy Reimagined on Thursday, September 29, 2022 at 4:30pm (EST). Register at the bio or https://nbstrn.org/2022-nbs-research-summit

Address

7101 Wisconsin Avenue
Bethesda, MD
20814

Telephone

+13017189603

Website

https://www.nbstrn.org/

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