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2023

PlumCare RWE Taps Lifebit to Scale Rady-Backed Newborn Sequencing Screening Program in Greece

GenomeWeb

Lifebit said Wednesday that it has won a three-year contract from healthcare data company PlumCare RWE to support the scale-up of a newborn genome sequencing screening program in Greece.

January 26, 2023

Deep-Learning Model Can Detect Disease-Causing Mosaic Mutations

Health IT Analytics

California-based researchers described how they trained a deep-learning model to detect DNA mutations called mosaic mutations that could support the development of treatments for several diseases.

January 3, 2023

Deep Learning Uncovers Disease-Causing Mosaic Mutations

Inside Precision Medicine

Researchers at the UCSD School of Medicine and RCIGM have created a deep learning tool that uncovers disease-causing mosaic mutations, a first step they say to find ways to develop treatments for many diseases.

January 3, 2023

2022

New genetic newborn screening test is a ‘quantum leap forward’

WISH-TV, Indianapolis

WISH-TV, Indianapolis: A new screening for newborns could expand the number of genetic diseases infants are tested for before they leave the hospital. The project is called BeginNGS, with the NGS standing for Newborn Genomic Sequencing.

October 26, 2022

Rare Disease Report Podcast: Newborn Screening Awareness and Novel Diagnostic Tool

Rare Disease Report

RARE DISEASE REPORT: Catherine Nester, RN, and Dr. Stephen Kingsmore, discuss the pivotal role of newborn screening in diagnosing rare diseases along with the impact that BeginNGS can have on the future of rare disease medicine.

October 10, 2022

Genomic Newborn Screening Studies Around the World Begin to Take Baby Steps

GenomeWeb

GENOMEWEB: [Newborn sequencing] research studies around the world are starting to get off the ground, ranging in size from 1,000 to more than 100,000 infants. At the inaugural International Conference on Newborn Sequencing (ICoNS) in Boston last week, eight of these endeavors — based in the US, Europe, and Australia — provided outlines of their plans and goals.

October 10, 2022

Nanopore Sequencing Rapidly Advances, Enabling Genetic Assessment of Newborn in Three Hours

GenomeWeb

GENOMEWEB: RCIGM President & CEO Stephen Kingsmore provides context for the nanopore’s latest three-hour sequencing announcement.

October 6, 2022

Can gene sequencing at birth prevent terrible diseases? Researchers hope so.

USA Today

USA TODAY: Every baby born in the United States is pricked in the heel shortly after birth. A blood sample is then analyzed to look for one of 20 to 30 inherited diseases. Now, doctors want to go even further: They want to look not just at blood, but at genes.

October 5, 2022

Rady Children’s partners with data company to launch pediatric genomic screening

Becker’s Hospital Review

BECKER’S HOSPITAL REVIEW: San Diego-based Rady Children’s Institute for Genomic Medicine has partnered with healthcare data company PlumeCare RWE to create a pilot program that will screen newborns for 400 genetic diseases.

October 3, 2022

Building a Pipeline of Therapies to Treat Rare Mineralization Disorders

Global Genes Podcast

Global Genes spoke to the co-founder of Inozyme about ENPP1 deficiency, its lead experimental therapy to treat the condition, and its work with Rady Children’s Institute for Genomic Medicine to improve the diagnosis of newborns.

September 23, 2022

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