The NBS NBSTRN 2022 Research Summit

image: NBS Research Summit 2022 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

Meeting announcement

TRANSLATIONAL RESEARCH NETWORK OF NEWBORN SCREENING

To celebrate Newborn Screening Awareness Month in September, NBSTRN is thrilled to host its 2022 Annual Newborn Screening Research Summit: Newborn Screening Research: Efforts to understand genetic information and new technologies in screening, diagnosis and treatment September 28-29, 2022, 12pm – 5pm EST.

The event is free, but registration is required at https://nbstron.org/2022-nbs-research-summit

The 2022 NBS Research Summit will showcase efforts to discover new technologies for screening, diagnosing and treating newborns with genetic conditions identified through newborn screening. Doctors from five institutions will present their efforts to improve treatments in type 1 glutaric aciduria, pyruvate dehydrogenase complex deficiency, spinal muscular atrophy, Duchenne muscular dystrophy, critical congenital heart disease and anemia. sickle cell. Physicians and healthcare professionals working in the field will share their work to use genome sequencing to improve detection of hearing loss and other conditions. Advances in information technology are also key to advancing neonatal screening and the summit will include presentations on phenopacks to link phenotypic and genetic information, as well as innovative approaches to organize genomic, phenotypic and clinical data for medical care management. .

Each day, five sessions will present ongoing cutting-edge research by experts in neonatal screening research. Attendees will have the opportunity to chat with our speakers during the live question and answer session.

Match details: September 28-29, 2022, 12-17 (EST). More information on topics, speakers and activities can be found here.

To learn more about the speakers, read their biographies, abstracts and articles of interest published, visit the NBSTRN forum. NBSTRN Forum is the subscription portal designed for the NBSTRN network that allows you to connect, learn and share!

Benefits of joining the NBSTRN forum:

  • The easy-to-use portal and tools allow you to create a professional profile and connect your colleagues who conduct important research, clinical care and public health activities.
  • Central location for all communications with NBSTRN staff.
  • Presentations and notes in one place – no longer have to waste time searching for information or duplicating work.
  • Calendar of important events and NBSTRN activities.

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

NBS 2022 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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