The NBSTRN 2022 NBS Research Summit


NBSTRN 2022 NBS Research Summit Speaker

Image: 2022 NBS Research Summit Speakers • Jirair Bedoyan, MD, PhD – University of Pittsburgh • Yvonne Carroll, RN, JD – St. Jude Children’s Research Hospital • Mai ElMallah, MD – Duke University • Melissa Haendel, PhD – University of Colorado Anschutz Medical Campus • Sander Houten, PhD – Icahn School of Medicine at Mount Sinai Akash Kumar, MD, PhD – MyOme • Peter Robinson, MD – The Jackson Laboratory • Heather Siefkes, MD – University of California, Davis • Shengdar Tsai, PhD – St Jude Children’s Research Hospital • Jonathon Whitton, AuD, PhD – Decibel Therapeutics • Michelle Zelnick, MS, CGC – Baylor College of Medicine
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Credit: Design created by Yekaterina Unnikumaran and Kee Chan

Announcement of the meeting

TRANSLATIONAL RESEARCH NETWORK FOR NEONATAL SCREENING

In celebration of Newborn Screening Awareness Month in September, NBSTRN is pleased to host its annual Newborn Screening Research Summit 2022: Newborn Screening Research: Efforts to understand genetic information and novel technologies in screening, diagnosis, and treatment on September 28 and 29, 2022 from 12pm to 5pm EST.

The event is free, but you must register at https://nbstrn.org/2022-nbs-research-summit

The 2022 NBS Research Summit will showcase efforts to discover novel technologies to screen, diagnose and treat newborns with genetic disorders identified through newborn screening. Clinicians from five institutions will present their efforts to improve treatments for glutaric aciduria type 1, pyruvate dehydrogenase complex deficiency, spinal muscular atrophy, Duchenne muscular dystrophy, critical congenital heart disease and sickle cell disease. Clinicians and healthcare professionals working in the industry will share their work on using genome sequencing to improve detection of hearing loss and other conditions. Advances in information technology are also key to advancing newborn screening, and the summit will include presentations on phenopackages for linking phenotypic and genetic information, as well as innovative approaches to organizing genomic, phenotypic and clinical data for health care management.

Current cutting-edge research from experts in newborn screening research will be presented in five sessions each day. Attendees will have the opportunity to chat with our presenters during the live Q/A session.

Meeting details: 28-29 September 2022, 12pm-5pm EST. More information on topics, speakers and activities can be found here.

To learn more about the speakers, read their CVs, abstracts and interesting articles published on the NBSTRN forum. The NBSTRN Forum is the Members Portal developed for the NBSTRN Network to connect, learn and share!

Benefits of Joining the NBSTRN Forum:

  • With the easy-to-use portal and tools, you can create a professional profile and connect your peers conducting important research, clinical care and public health efforts.
  • Central location for all communication with NBSTRN staff.
  • Presentations and notes in one place – no more wasting time looking for information or duplicating work.
  • Calendar of important events and NBSTRN activities.

Once on the NBSTRN forum, join the 2022 NBS Research Summit Circle to meet and connect with our speakers and other NBS colleagues.

Speakers at the 2022 NBS Research Summit:

  • Jirair Bedoyan, MD, PhD – University of Pittsburgh
  • Yvonne Carroll, RN, JD – St. Jude Children’s Research Hospital
  • Mai ElMallah, MD—Duke University
  • Melissa Haendel, PhD – University of Colorado Anschutz Medical Campus
  • Sander Houten, PhD – Icahn School of Medicine at Mount Sinai
  • Akash Kumar, MD, PhD – MyOme
  • Peter Robinson, MD – The Jackson Laboratory
  • Heather Siefkes, MD – University of California, Davis
  • Shengdar Tsai, PhD – St. Jude Children’s Research Hospital
  • Jonathon Whitton, AuD, PhD – Decibel Therapeutics
  • Michelle Zelnick, MS, CGC – Baylor College of Medicine


Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of the press releases published on EurekAlert! by contributing institutions or for the use of information about the EurekAlert system.



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