https://deepmind.google/blog/a-catalogue-of-genetic-mutations-to-help-pinpoint-the-cause-of-diseases/
Oct 24, 2025 - New AI tool classifies the effects of 71 million ‘missense’ mutations Uncovering the root causes of disease is one of the greatest challenges in human...
cataloguegeneticmutationshelppinpoint
https://www.broadinstitute.org/news/single-prime-editing-system-could-potentially-treat-multiple-genetic-diseases
Researchers have developed a genome-editing strategy that targets a common cause of roughly 30 percent of rare diseases and could vastly improve access to...
genetic diseasessingleprimeeditingsystem
https://www.abc.net.au/news/health/2025-05-28/world-first-crispr-therapy-transform-gene-editing-treatments/105337184
May 27, 2025 - Scientists have used personalised gene-editing therapy to successfully treat a baby with a rare genetic condition. Could this technique help to unlock...
worldfirstcrisprtherapycould
https://www.azorobotics.com/News.aspx?newsID=16265
popEVE, an AI tool developed by Harvard researchers, classifies genetic variants by disease potential, aiding in the diagnosis of rare genetic disorders.
ai modelrare diseasesidentifiesgeneticvariants
https://www.lsuhs.edu/about/newsroom/blog/individual-blog/~board/news-from-all-departments/post/working-at-the-gene-level-to-uncover-the-genetic-and-molecular-basis-for-cardiovascular-diseases
Amr Salem, DVM, MSc, PhD, Assistant Professor of Pathology and Translational Pathobiology and member of the LSUHS Center for Cardiovascular Diseases and...
workinggeneleveluncover
https://www.illumina.com/company/news-center/feature-articles/progress-for-patients-with-RUGD.html
The Blue Cross Blue Shield Association technology review organization, known as Evidence Street, issued a positive review of Whole Genome Sequencing for...
genetic diseasesprogresspatientsrare
https://www.everydayhealth.com/genetic-diseases/
Jan 16, 2026 - Genetic diseases are inherited conditions that can affect your health. Explore information on genetic disorders, like Muscular Dystrophy, Down Syndrome, Fabry...
genetic diseasesresource center
https://www.fightingblindness.ca/resources/genetic-testing-for-inherited-retinal-diseases/
Feb 3, 2022 - Genetic testing for inherited retinal diseases (IRD) has significantly increased in the last decade. Scientists have discovered over 300 genes that cause IRDs....
genetic testingretinal diseasesinheritedfightingblindness
https://ggc.org/grateful-families/meet-jeremiah-for-rare-diseases-time-is-of-the-essence/
Sep 9, 2025 - Meet Jeremiah - For rare diseases, time is of the essence | Greenwood Genetic Center
rare diseasesmeetjeremiahtimeessence
https://singularityhub.com/2025/12/04/one-dose-of-this-gene-editor-could-ward-off-a-host-of-genetic-diseases-suffered-by-millions/
The gene-editing tool takes on "nonsense mutations" that are involved in roughly 30 million genetic diseases.
onedosegeneeditorcould