Researchers who believe genomics can transform human health love to recount success stories. They’ll tell you about the 3-month-old boy whose heart was failing until researchers pinpointed what was ailing him. Or the baby girl who could have had a life-threatening reaction to anesthesia had researchers not sequenced her DNA ahead of time.
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.
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.
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.
PEDIATRIC MELTDOWN PODCAST: Podcast host Dr. Lia Gaggino talks with Dr. Caleb Bupp, Dr. Andrea Scheurer and Dr. Joseph Fakhoury about Project Baby Deer.
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.
NATURE COMMUNICATIONS MEDICINE: Stephen Kingsmore talks about the challenges in diagnosing rare diseases and how diagnosis could be improved in the future.
Global Bio & Investment: RCIGM CEO Stephen F. Kingsmore spoke at the Asia-Pacific Forum on Population Genomics and Precision Medicine.
PEDIATRIC MELTDOWN PODCAST: Podcast host Dr. Lia Gaggino talks with Dr. Caleb Bupp, Dr. Andrea Scheurer and Dr. Joseph Fakhoury about Project Baby Deer.
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.
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.
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.
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