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New technique reveals earliest signs of genetic mutations

Mutations are changes in the molecular letters that make up the DNA code, the blueprint for all living cells. Some of these changes can have little effect, but others can lead to diseases, including cancer. Now, a new study introduces an original technique, called HiDEF-seq, that can accurately detect the early molecular changes in DNA code that precede mutations. ....

United States , Nuna Choi , Emilie Lassen , Melissa Edwards , Gilad Evrony , Mei Hong Liu , Rachel Bandler , Lucie Stengs , Adam Schwing , Emilia Bianchini , Jonathan Shoag , Pacific Biosciences , Tina Truong , Caitlin Loh , Shany Picciotto , Richard Wagner , Daniel Rosenkjaer , Tomi Pastinen , Vanessa Bianchi , Zachary Murphy , Marta Gronska Peski , Nuno Miguel Nunes , Jacob Goldfield Foundation , Egg Bank , Grossman School Of Medicine , National Institutes Of Health ,

Children's Mercy Hospital delivers clarity for family

The Kisners were thrown into the Rare Disease Community without warning. ....

Mercy Hospital , United States , Kisners Ben , Donna Pitman , Tomi Pastinen , Rare Disease Community , Chiari Disease , Genomic Answers ,

Children's Mercy Hospital has a new tool to identify rare diseases

It's a breakthrough for a rare disease diagnosis, and it has wide-reaching impacts on children from Canada to Puerto Rico and beyond. ....

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Gene Editing, Obesity Drugs And Long-Living Dogs: The Year In Biotech

2023 saw big shifts in the macroeconomics of the biotech sector, but also major technological milestones for longer, healthier lives. ....

United States , Tomi Pastinen , Andreessen Horowitz , Anne Wojcicki , Celine Halioua , Emmanuelle Charpentier , Brian Armstrong , Vijay Pande , Lilly Mounjaro , Silicon Valley Bank , Novo Nordisk , Goldman Sachs , Vertex Pharmaceuticals , First Crispr Gene , Crispr Therapeutics , Nobel Prize , Hit The Big , Human Genome Project , Cofounder Anne Wojcicki , Kansas City Based Children , Mercy Hospital , Startup Finds , Promising Way To Live Longer , Gene Editing ,

Children's Mercy makes progress advancing pediatric genomics

The Kansas City hospital has developed a process for performing whole-genome sequencing tests in the clinical setting. The next step is to use the data in clinical validation testing, says the director of its Genomic Medicine Center. ....

United States , Joel Diamond , Tomi Pastinen , National Institutes Of Health , Mercy Kansas City , Pediatric Genomic , National Institutes ,