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Dr. Stephen Kingsmore: Reviewing the first 10 years of genome-informed healthcare for children and predicting the next 10 years

KGI: Innovation in Applied Life Sciences & Healthcare Podcast

KGI: INNOVATION IN APPLIED LIFE SCIENCES & HEALTHCARE PODCAST: In this episode, Dr. Stephen Kingsmore discusses reviewing the first 10 years of genome-informed healthcare for children and predicting the next 10 years.

February 8, 2023

Genetic Testing in the PICU Prompts Meaningful Changes in Care


Two thirds of children who underwent genetic testing in the pediatric intensive care unit showed a genetic variant, and a third of these children received changes in care as a result, according to a new study presented at the Society of Critical Care Medicine’s (SCCM) 2023 Critical Care Congress.

January 31, 2023

Genome Sequencing May Improve Care in PICU

Pharmacy Practice News

The use of diagnostic rapid whole-genome sequencing (rWGS) can play a crucial role in guiding treatment for critically ill children, researchers reported at the 2023 Critical Care Congress, in San Francisco.

January 31, 2023

Health Rounds: Newer genetic tests underused in critically ill kids


Today we highlight three potentially practice-changing studies…. When the reason for a child’s critical illness is unclear, rapid genetic testing often helps identify the problem and point doctors to the right treatment – but it is currently underused, researchers say.

January 31, 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


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

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

October 6, 2022

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