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2023

After her child died, this mom found a beautiful way to keep her close

TODAY

TODAY: Lindzi Scharf’s “feisty” 3-year-old daughter, Evan, loved wearing sunglasses. When the little girl died last year from mitochondrial disease, Scharf turned her favorite accessory into a piece of art.

April 28, 2023

Familial Glioma Study Uncovers New Risk Genes

GenomeWeb

GENOMEWEB: An international team has tracked down rare glioma-related variants in seven genes through a genome sequencing study that tapped into a collection of familial glioma that began well over a decade ago.

April 28, 2023

How AI is Transforming Rare Disease Diagnosis

HIT Consultant

HITConsultant.net: Chris Tackaberry, founder and CEO of Clinithink, reviews the role of AI in transforming the diagnostic odyssey, focusing on RCIGM’s work with Clinical Natural Language Processing. 

April 6, 2023

The doctor will see your phone now: Sequencing and speedy diagnosis give chance of timely care

New Zealand Doctor

NEW ZEALAND DOCTOR: In this cover story, journalist Alan Perrott grills a leader in genome sequencing and artificial intelligence on the future of healthcare.

March 28, 2023

Researchers Identify Cause of Mysterious Cases of Childhood Epilepsy

SciTech Daily

SCITECH DAILY: International research teams have uncovered a new cause for pediatric seizures: mosaicism, a condition in which cells within the same individual have different genetic compositions.

March 23, 2023

England’s National Health Service to Offer Widespread Rapid Whole Genome Sequencing for Children and Babies

Dark Daily

DARK DAILY: Research in the UK and US into how rapid WGS can prevent deaths and improve outcomes for kids with rare genetic diseases may lead to more genetic testing based in local clinical laboratories.

March 13, 2023

How a teenager’s stomach ache turned into a heart transplant at Rady Children’s

CBS8 News

CBS8 News: A Culver City teen who has dreams of being an NBA star complained of a stomach ache, two weeks later he got a heart transplant.

March 8, 2023

From Stomachache to Heart Transplant: How Genomics Saved a Teen’s Life

RCHSD Kite Insights Blog

RCHSD KITE INSIGHTS BLOG: It all started with a stomachache which quickly turned into a more serious heart condition.

March 1, 2023

Stephen Kingsmore’s quest to test every baby with genome sequencing

The Harry Glorikian Show

The Harry Glorikian Show: Stephen Kingsmore talks with Harry Glorikian about the power of rapid Whole Genome Sequencing™, how far we’ve come in adoption, and much more. 

February 14, 2023

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