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#genetics

8 posts8 participants2 posts today
Public
Tadonic the Flautulent

Baby Is Healed With World’s First Personalized Gene-Editing Treatment
The technique used on a 9½-month-old boy with a rare condition has the potential to help people with thousands of other uncommon genetic diseases.
nytimes.com/2025/05/15/health/
#news #science #breakthrough #genetics #GeneEditing

The New York Times · Baby Is Healed With World’s First Personalized Gene-Editing TreatmentBy Gina Kolata
Public
Flipboard Science Desk

When KJ Muldoon was born at Children's Hospital of Philadelphia (CHOP) in August, doctors noticed that he was lethargic. They carried out tests that revealed he had a genetic metabolic disorder that leads to the buildup of ammonia and can cause brain damage and death. Gene sequencing helped them determine the exact location of the error that led to him being unable to make a vital enzyme. This allowed doctors to use CRISPR technology to create a treatment tailored specifically towards his unique mutation. After three infusions containing billions of gene editors, his defect appears to have been corrected and his condition, at least partially reversed. "This is an important first step towards an entirely new type of personalized medicine. I think it's going to utterly transform the way we practice medicine, particularly in the area of rare diseases," says Dr. Kiran Musunuru, a professor for translational research at the University of Pennsylvania, who worked on KJ's case. See the @npr story at the first link. There's a link to the original article in the New England Journal of Medicine at the second link.

flip.it/M_l8MJ

flip.it/R-WrOX

#Science#Medicine#Microbiology
Public
(((Cindy Weinstein)))

Capping indirect costs (the link below, starting at bullet 44 provides an excellent explainer re: indirect costs) kneecaps the #science. #NSF supports research in physics and engineering, as well as research on #genetics, #Parkinsons, #Alzheimer's. Not only will these cuts destroy US leadership in science, but the effects on the bodies in the body politic are profound. We will be sicker and suffer more.

aau.edu/sites/default/files/AA

#USPol
Public
charrvein

The Human Genome Structural Variation Consortium will meet at the University of Iceland on May 20. The following seminars will be open to all.

Starts with
"Genetic & epigenetic variation of centromeres in nearly complete human genomes” - Glennis Logsdon

See next toot.

The seminars take place at the Edda building on campus, room E103, from 14:00-16:00.

#genetics #humanGenetics #universityIceland #HGV #CNV #T2T #Genome #StructuralVariation #Iceland #Reykjavik

english.hi.is/seminars-human-g

Public
The Inquisitive Biologist

This week's #NewBooks at the library: A second-hand copy of an original 1961 hardback of Arthur O. Lovejoy's The Great Chain of Being from Harvard University Press, a review copy of The Lives of #Bats from @princetonupress @princetonnature, and a second-hand copy of @matthewcobb's The Genetic Age: Out Perilous Quest to Edit Life from Profile Books.

#Books #Scicomm #Bookstodon #HistoryOfScience #ScienceHistory #HistSci #ScalaNaturae #Chiroptera #Mammals #Genetics @bookstodon

A top-down photo of three books lying down on a small, brown, wooden table. At the top, lying down a wooden bookstand, The Great Chain of Being, opened on its title page (the cover is plain dark-red cloth binding so not very interesting to show). At the bottom left, The Lives of Bats, showing a bat in flight against a black background. At the bottom right, The Genetic Age, showing a simplified, schematic diagram of a DNA double helix with green and yellow nucleotides and a red-blue sugar-phosphate backbone. One of the two strands of the backbone turns into the head of a snake with a blue tongue flicking out. The background shows a beech-coloured laminate floor.
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