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Noticias recientes

Pioneering studies show promise in sequencing a baby's genome at birth

This article highlights Early Check, a research study led by our experts in collaboration with UNC at Chapel Hill School of Medicine and the NC State Laboratory of Public Health.

junio 2024

Genomic testing - a revolution in newborn screening

Rare Revolution Magazine

junio 2023

Screening Aimed to Advance Public Health Outcomes for Newborns

RTI International

mayo 2023

Baby First at UNC to Receive Gene Therapy for SMA, Thanks to Early Check Newborn Screening

UNC Health and UNC School of Medicine Newsroom July 2021

julio 2021

Research Triangle study may help save children's lives

WRAL

junio 2021

Three Babies with Spinal Muscular Atrophy Have Bright Futures Thanks in Part to North Carolina’s Early Check Program

RTI International

marzo 2021

New Paper: A Voluntary Statewide Newborn Screening Pilot for SMA: Results from Early Check

International Journal of Neonatal Screening

marzo 2021

NC study offers new parents head start in identifying rare diseases

WRAL

marzo 2020

New Paper Describes Method for Detecting Fragile X

RTI International

marzo 2020

Fragile X Added to Newborn Screening in North Carolina Through New Study

Fragile X News Today

octubre 2018

You can get your baby tested for two rare genetic disorders — for free

The News & Observer

octubre 2018

New NC-Based Study to Advance Research Through Free and Expanded Health Screening for Newborn Babies

RTI International

octubre 2018

Generating Evidence to Inform Newborn Screening for Rare Disorders

Presentation at Duke Genomic and Precision Medicine Forum

abril 2018

CTSA Program Investigators Collaborate to Enhance Newborn Screening

National Institutes of Health

junio 2017

Advancing Research through Expanded Newborn Screening

RTI International

enero 2017

 

Publicaciones de Investigatión

• Cope, H. L., Milko, L. V., Jalazo, E. R., Crissman, B. G., Foreman, A. K. M., Powell, B. C., deJong, N. A., Hunter, J. E., Boyea, B. L., Forsythe, A. N., Wheeler, A. C., Zimmerman, R. S., Suchy, S. F., Begtrup, A., Langley, K. G., Monaghan, K. G., Kraczkowski, C., Hruska, K. S., Kruszka, P., Kucera, K. S., … Peay, H. L. (2024). A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation. Genetics in medicine: official journal of the American College of Medical Genetics, 101290. Advance online publication. https://doi.org/10.1016/j.gim.2024.101290

• Lincoln-Boyea, B., Moultrie, R. R., Biesecker, B. B., Underwood, M., Duparc, M., Wheeler, A. C. y Peay, H. L. (2023). Misunderstood terms and concepts identified through user testing of educational materials for fragile X premutation. Revista de Asesoramiento Genético, 00, 1– 11.

• Bailey Jr, DB (2022). A Window of Opportunity for Newborn Screening. Diagnóstico y terapia molecular, 26(3), 253-261.

• Peay, H. L., Gwaltney, A. Y., Moultrie, R., Cope, H., Lincoln-Boyea, B., Porter, K. A., Duparc, M., Alexander, A. A., Biesecker, B., Isiaq, A., Check, J., Gehtland, L., Bailey Jr., D. B. y King, N. M. (2022). Education and Consent for Population-Based DNA Screening: A Mixed-Methods Evaluation of the Early Check Newborn Screening Pilot Study. Fronteras en genética, 13, 891592

• McInnis, S., Sobolewski, J., Dass, M., Gehtland, L.M. y Bailey Jr, D. B. (2022) Using Facebook, Instagram, and Pinterest advertising campaigns to increase enrollment in newborn screening research. Front. Commun. 7:1052355. Frente. común 7:1052355.

• Migliore, B. A., Zhou, L., Duparc, M., Robles, V. R., Rehder, C. W., Peay, H. L. y Kucera, K. S. (2022). Evaluation of the GSP Creatine Kinase-MM Assay and Assessment of CK-MM Stability in Newborn, Patient, and Contrived Dried Blood Spots for Newborn Screening for Duchenne Muscular Dystrophy. Revista internacional de cribado neonatal, 8(1), 12.

• Gehtland, L. M., Paquin, R. S., Andrews, S. M., Lee, A. M., Gwaltney, A., Duparc, M., Pfaff, E. R. y Bailey Jr, D. B. (2022). Using a Patient Portal to Increase Enrollment in a Newborn Screening Research Study: Observational Study. JMIR pediatría y crianza, 5(1), e30941

• Katerina S. Kucera, Jennifer L. Taylor, Veronica R. Robles, Kristin Clinard, Brooke Migliore, Beth Lincoln Boyea, Katherine C. Okoniewski, Martin Duparc, Catherine W. Rehder, Scott M. Shone, Zheng Fan, Melissa Raspa, Holly L. Peay, Anne C. Wheeler, Cynthia M. Powell, Donald B. Bailey, Jr. y Lisa M. Gehtland. A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check. International Journal of Neonatal Screening, 21 de marzo de 2021;7(1):20.

• Paquin, R. S., Lewis, M. A., Harper, B. A., Moultrie, R. R., Gwaltney, A., Gehtland, L. M., Peay, H., Duparc, M., Raspa, M., Wheeler, A. C., Powell, C. M., King, N. M., Shone, S. y Bailey Jr, D. B. (2021). Outreach to new mothers through direct mail and email: recruitment in the Early Check research study. Ciencia clínica y traslacional, 14(3), 880-889. (2021)

• Stacey Lee, Jennifer L. Taylor, Charles Redmond, Andrew G. Hadd, Jon A. Kemppainen, Brian C. Haynes, Scott Shone, Donald B. Bailey Jr., Gary J. Latham. Validation of Fragile X Screening in the Newborn Population Using a Fit-for-Purpose FMR1 PCR Assay System. The Journal of Molecular Diagnostics, volumen 22, número 3, marzo de 2020, páginas 346-354

• Guillory, J., Jordan, A., Paquin, R. S., Pikowski, J., McInnis, S., Anakaraonye, A., Peay, H. y Lewis, M. A. (2020). Using social media to conduct outreach and recruitment for expanded newborn screening. Fronteras en la comunicación, 5, 21.

• Gehtland, L. M. y Bailey, D. B. (2019). Early Check: A North Carolina research partnership. Revista médica de Carolina del Norte, 80(1), 59-61.

• Okoniewski, K. C., Wheeler, A. C., Lee, S., Boyea, B., Raspa, M., Taylor, J. L. y Bailey, D. B. (2019). Early identification of fragile X syndrome through expanded newborn screening. Ciencias del cerebro, 9(1), 4.

• Bailey, D. B., Gehtland, L. M., Lewis, M. A., Peay, H., Raspa, M., Shone, S. M., Taylor, J., Wheeler, A., Cotten, M., King, N. M., Powell, C. M., Biesecker, B., Bishop, C. E., Boyea, B. L., Duparc, M., Harper, B. A., Kemper, A. R. , Lee, S. N., Moultrie, R., Okoniewski, K. C., Paquin, R. S., Pettit, D., Porter, K. A. y Zimmerman, S. J. (2019). Early Check: translational science at the intersection of public health and newborn screening. Pediatría BMC, 19(1), 1-13. (2019)

• Bailey, D. B., Berry-Kravis, E., Gane, L. W., Guarda, S., Hagerman, R., Powell, C. M., Tassone, F., & Wheeler, A. (2017). Fragile X newborn screening: lessons learned from a multisite screening study. Pediatrics, 139(Suppl 3), S216-S225.
• Bailey, D. B. & Gehtland, L. (2015). Newborn screening: Evolving challenges in an era of rapid discovery. JAMA, 313(15), 1511-1512.
• Paquin, R. S., Peay, H. L., Gehtland, L. M., Lewis, M., & Bailey, D. B. (2016). Parental intentions to enroll children in a voluntary expanded newborn screening program. Social Science & Medicine, 166, 17-24. Epub 2016 Jul 29.