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November 16, 2023

Sponsored Ultra-rapid Whole Genome Sequencing Offered for Select Critically Ill Infants

Inozyme is seeking patients with disease-causing variants in the ENPP1 and/or ABCC6 genes for possible participation in a clinical trial.

Media Coverage
September 27, 2023

Rare Community Profiles: Inozyme’s Catherine Nester Discusses Newborn Screening and the GACI Diagnostic Delay

Patient Worthy

PATIENT WORTHY: Catherine Nester spoke with Patient Worthy about the importance of newborn screening, the challenges of diagnostic delays, and how Inozyme is working to transform the treatment landscape for ENPP1 Deficiency and ABCC6 Deficiency, also known as Generalized Arterial Calcification of Infancy (GACI) types 1 and 2, respectively.

Media Coverage
September 25, 2023

Why Pharma Should Pay Attention to – and Be Part of – Rapid Whole Genome Sequencing Advancement

Fierce Pharma

FIERCE PHARMA: In part two of this series, we turn our attention to rWGS and the pharmaceutical industry – specifically, the great potential of rWGS in drug development and patient access, and the important role pharma plays in advancing this promising technology.

Media Coverage
September 8, 2023

Dr Stephen Kingsmore Describes the Participants of the BeginNGS Consortium

AJMCtv

Dr. Stephen Kingsmore explains how the BeginNGS consortium members help the project to continually evolve.

Press Releases
July 10, 2023

Rady Children’s Institute for Genomic Medicine Launches Phase 2 of BeginNGS Program for Identifying Treatable Genetic Diseases for Newborns

During its first year, the BeginNGS newborn whole genome sequencing program welcomed 22 founding members, completed its first phase, and launched next-phase screening for 31 additional genetic disorders.

Press Releases
June 14, 2022

RCIGM Launches Program to Advance Newborn Screening for Treatable Genetic Diseases

Media Coverage
May 6, 2022

Rady Children’s to Launch Consortium for Rapid Whole-Genome Sequencing of Newborns

GenomeWeb

Media Coverage
January 4, 2022

Rady Children’s Fast Genomic Sequencing Initiative Gains Steam

Health Data Management

Rapid whole genome sequencing will become more useful, augmented by EHR data, the use of the cloud and comparisons with large databases, says Stephen Kingsmore, MD.

Media Coverage
October 21, 2021

Artificial Intelligence Can Rapidly Diagnose Rare Genetic Diseases

Medscape

Media Coverage
October 14, 2021

Study Shows Fabric’s GEM AI Improves Rare Disease Diagnosis

Clinical OMICs