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Familial Glioma Study Uncovers New Risk Genes


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

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

Why Genome Sequencing Is So Controversial: 100,000 Newborns This Year Will Be Tested In The U.K., Joining NYC


FORBES: A U.K. program will begin genome sequencing on 100,000 babies this year, but some experts believe the practice could prove unethical.

March 21, 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

Rapid Whole Genome Sequencing: Unlocking a Puzzle​

Pediatric Meltdown Podcast

PEDIATRIC MELTDOWN PODCAST: Podcast host Dr. Lia Gaggino talks with Dr. Caleb Bupp, Dr. Andrea Scheurer and Dr. Joseph Fakhoury about Project Baby Deer.

February 28, 2023

It takes an average of 8 years for a rare disease patient to get diagnosed. Why is it so hard to get life-altering genetic testing in the U.S.?


Fortune: No one wants to find themselves sick or in need of a medical diagnosis. But there are those out there who already are—and are desperately seeking answers.

February 28, 2023

Communications Medicine Q&A With Dr. Stephen Kingsmore

Nature Communications Medicine

NATURE COMMUNICATIONS MEDICINE: Stephen Kingsmore talks about the challenges in diagnosing rare diseases and how diagnosis could be improved in the future.

February 28, 2023

Precision medicine in Asia: Leaping evolution improves diagnosis rate and catches rare diseases

Global Bio & Investment

Global Bio & Investment: RCIGM CEO Stephen F. Kingsmore spoke at the Asia-Pacific Forum on Population Genomics and Precision Medicine.

February 15, 2023

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