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tag somatic mutations disease medicine

Glass mosaic with the image of two people. The bodies are arbitrarily crossed by lines that divide them into amorphous fractions, some of them colored.
Noninherited Genetic Mutations Link to Schizophrenia
Alejandra Manjarrez, PhD | Jul 20, 2023 | 2 min read
By studying the genomes of more than 24,000 individuals, researchers discovered rare genetic mutations that may shed light on mechanisms underlying schizophrenia.
Image of the tissue surrounding a pancreatic tumor thickening and scarring.
How Pancreas Injuries Can Cause Cancer in Mice
Dan Robitzski | Nov 9, 2021 | 4 min read
A key mutation turns healing cells into cancer promoters.
bacteria and DNA molecules on a purple background.
Engineering the Microbiome: CRISPR Leads the Way
Mariella Bodemeier Loayza Careaga, PhD | Mar 15, 2024 | 10+ min read
Scientists have genetically modified isolated microbes for decades. Now, using CRISPR, they intend to target entire microbiomes.
FDA Approves Oral Drug for Fabry Disease
Ashley Yeager | Aug 13, 2018 | 2 min read
The medicine increases the activity of a deficient enzyme in certain patients with the condition.
Rare Disease Geneticist: A Profile of Uta Francke
Anna Azvolinsky | May 1, 2018 | 9 min read
The Stanford University human geneticist identified the genes and genomic abnormalities underlying numerous rare diseases, including Rett  syndrome, and advanced the field of molecular diagnostics. 
Artistic rendition of droplet DNA amplification
Finally, Scientists Sequence Single Cells with Long-Read Technology
Holly Barker, PhD | Mar 8, 2023 | 4 min read
By combining two innovative approaches, researchers can now sequence the full spectrum of mutational differences between individual cells’ genomes.
Medical illustration depicting self-renewal of a single stem cell dividing into two identical cells.<br><br>
What Is Stemness and Pluripotency?
Deanna MacNeil, PhD | Sep 30, 2022 | 5 min read
Scientists study pluripotent stems cells to understand early development and how to use them in regenerative medicine, disease modeling, and drug discovery.
Mosaic Mutations
Kate Yandell | Jul 31, 2014 | 3 min read
Some genetic abnormalities that appear to have sprung up independently in children are in fact present in a portion of their parents’ cells.
a photo of the packaging for the drug Trikafta
FDA Approves New Cystic Fibrosis Drug
Shawna Williams | Oct 24, 2019 | 1 min read
The treatment, Trikafta, increases lung function in most patients with the disease—but comes with a hefty price tag.
Studying “Stone Man Syndrome,” Scientists Inadvertently Improve Cellular Reprogramming
Ben Andrew Henry | Oct 25, 2016 | 2 min read
While studying a rare genetic disease, researchers discovered a signaling pathway linked to the efficiency of reprogramming somatic cells into stem cells.

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