NBS Timeline
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Honoring 60 Years of Newborn Screening

See how scientific and medical advances have propelled newborn screening forward.

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BeginNGS
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Partnering to End the Diagnostic Odyssey

We are heading up a newborn sequencing consortium that will revolutionize and shorten the diagnostic journey.

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Changing Lives
In Real Time

We are transforming pediatric healthcare through the power of Rapid Precision Medicine™

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RPM
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Advancing Rapid
Precision Medicine™

We’re setting a new standard of care for newborns and children with rare undiagnosed diseases.

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We're Hiring

Join our dynamic team of professionals from around the world

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Spotlight

BeginNGS Media
Media Coverage

BeginNGS Program Seeks to Improve Pediatric Rare Disease Dx, Treatment via Rapid NGS, Data Curation

GENOMEWEB:In a paper published this week in the American Journal of Human Genetics, collaborators led by the Rady Children’s Institute for Genomic Medicine (RCIGM) formally spelled out plans to improve detection and treatment of rare hereditary pediatric diseases through rapid whole-genome sequencing (rWGS).

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AJHG publication announcement
Press Releases

Novel Newborn Screening System Uses Rapid Whole Genome Sequencing and Acute Management Guidance to Screen and Diagnosis Genetic Diseases

Study demonstrates feasibility of NBS-rWGS prototype to rapidly screen for several hundred genetic diseases with effective interventions

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Press Releases

Study Supports Potential of Genome-to-Treatment (GTRx™) to Guide Physicians  in the Management of 500 Treatable Genetic Diseases

GTRx, a clinical decision support tool, can provide front-line clinicians with the information they need to initiate precision treatments for critically ill infants and …

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Events

Oct
06

Considerations for Next-Generation Sequencing Reanalysis

Thursday October 06, 2022 | 2:30pm PT

The lead author from a recent meta-analysis on reanalysis of next-generation sequencing will share the process for developing this review and discuss recommendations for future standards in reanalysis. Featuring Dr. Pei Dai, and RCIGM's Katarzyna Ellsworth, PhD FACMG CGMB.

WEBINAR
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*Free Registration is required

Speaker:

  • Jonathan Sebat, PhD | Director, Beyster Center for Psychiatric Genomics
RPM GRAND ROUNDSWEBINAR
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*Free Registration is required

Sep
27

Virtual Event: Whole Genome Sequencing in the NICU

Tuesday September 27, 2022 | 8:45am

Join us for this free virtual event hosted by Illumina, where experts from a variety of backgrounds – including RCIGM's Dr. Kristen Wigby – will share their knowledge, experiences and lessons learned through bringing WGS into an acute-care setting. The goal of this event is to fill in gaps in knowledge regarding the clinical, diagnostic, and economic value that WGS can bring to an inpatient setting and appreciate the successes and challenges from various state programs.
VIRTUAL EVENT
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*Free Registration is required

Oct
05

International Conference on Newborn Sequencing

Wednesday October 05, 2022 | thru October 6, 2022

Dr. Stephen Kingsmore will be part of the exciting lineup of international leaders in newborn sequencing at the inaugural ICoNS conference.
CONFERENCEHYBRID EVENT
Sep
29

Illumina Genomics Forum

Thursday September 29, 2022 | 11am

RCIGM's Dr. Nathaly Sweeney will be on the panel, "End the Odyssey. The Long & Short of Fast Diagnosis."
HYBRID EVENTIN PERSON

Sep
20

Precision Medicine 2022: The New “Normal”?

Tuesday September 20, 2022 | 11:15am ET

RCIGM President & CEO Stephen Kingsmore will speak on a panel about new applications and technologies.
CONFERENCEHYBRID EVENT

Sep
10

AGBT Precision Health 2022

Saturday September 10, 2022 | 11am PT

RCIGM President & CEO Stephen Kingsmore will lead a fireside chat with a patient family on the final day of the annual AGBT Precision Health meeting in San Diego, CA.
CONFERENCEIN PERSONSPEAKING ENGAGEMENT

Sep
21

Variants of Uncertain Significance

Wednesday September 21, 2022 | 12pm PDT

A series of grand rounds presented in partnership with the Vermont-Oxford Network as part of the VON-Rady Children's Genomic Network. Speakers and learning objectives to be announced.
VON-RADY GENOMIC NETWORKWEBINAR
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*Free Registration is required

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Join Us in Transforming
Pediatric Healthcare

Rapid Precision Medicine™ is here now. We are setting the standard for pediatric critical care by breaking barriers to expand access to genomically-informed, personalized care nationwide. We offer many opportunities to collaborate with as we work to save and improve lives.

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