Front PageThey thought their son lived an isolated life. But when he died, friends showed up in droves.
https://fed.brid.gy/r/https://www.upworthy.com/mats-steen-ibelin-world-of-warcraft-ex1
The-14Yes, you can be intolerant to fruit and veg
#Health #Nutrition #Fructose #Sucrose #FoodIntolerance #Sorbitol #GeneticDisorder #FruitAndVeg #Hereditary #DigestiveHealth #RareDiseases #GeneticDisease
#HereditaryFructoseIntolerance #Fruit
#The14
https://the-14.com/yes-you-can-be-intolerant-to-fruit-and-veg/
#Health #Nutrition #Fructose #Sucrose #FoodIntolerance #Sorbitol #GeneticDisorder #FruitAndVeg #Hereditary #DigestiveHealth #RareDiseases #GeneticDisease
#HereditaryFructoseIntolerance #Fruit
#The14
https://the-14.com/yes-you-can-be-intolerant-to-fruit-and-veg/
Steve Dustcircle 🌹#Stemcell transplant without toxic preparation successfully treats #geneticdisease
https://medicalxpress.com/news/2025-07-stem-cell-transplant-toxic-successfully.html#google_vignette
Flipboard Science DeskWhen 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.
#Science #Medicine #Microbiology #Genetics #CRISPR #GeneEditing #Health #GeneticDisease #Children
FlipboardAngelman Syndrome is a rare genetic disorder that affects around half a million people worldwide. Here’s a story from @thexylom about the potential for a cure, and the barriers families in Hong Kong must overcome to access it.
#HongKong #Science #Health #GeneticDisease #NewstodonFriday #FollowFriday
michael10-JAN-2024
#AncientDNA reveals reason for high #multipleSclerosis and #Alzheimer’s rates in Europe
Ancient DNA reveals reason for high multiple sclerosis and Alzheimer’s rates in Europe
<p>Researchers have created the world’s largest ancient human gene bank by analysing the bones and teeth of almost 5,000 humans who lived across western Europe and Asia up to 34,000 years ago.</p> <p>By sequencing ancient human DNA and comparing it to modern-day samples, the international team of experts mapped the historical spread of genes – and diseases – over time as populations migrated. They found:</p> <ul> <li><strong>The startling origins of neurodegenerative diseases including multiple sclerosis </strong></li> <li><strong>Why northern Europeans today are taller than people from southern Europe </strong></li> <li><strong>How major migration around 5,000 years ago introduced risk genes into the population in north-western Europe – leaving a legacy of higher rates of MS today </strong></li> <li><strong>Carrying the MS gene was an <em>advantage</em> at the time as it protected ancient farmers from catching infectious diseases from their sheep and cattle</strong></li> <li><strong>Genes known to increase the risk of diseases such as Alzheimer’s and type 2 diabetes were traced back to hunter gatherers </strong></li> <li><strong>Future analysis is hoped to reveal more about the genetic markers of </strong><strong>autism, ADHD, schizophrenia, bipolar disorder, and depression</strong></li> </ul>
jobRxivMachine learning approaches in preclinical phenotypes (PhD position)
Fondazione Istituto Italiano di Tecnologia
Join the #PhD programme in applied #MachineLearning on preclinical data in rare #GeneticDisease research at Genoa, Italy
See the full job description on jobRxiv: https://jobrxiv.org/job/fondazione-istituto-italiano-di-tecnolog...
https://jobrxiv.org/job/fondazione-istituto-italiano-di-tecnologia-27778-machine-learning-approaches-in-preclinical-phenotypes-phd-position/?feed_id=67262
Machine learning approaches in preclinical phenotypes (PhD position)
Fondazione Istituto Italiano di Tecnologia
Join the #PhD programme in applied #MachineLearning on preclinical data in rare #GeneticDisease research at Genoa, Italy
See the full job description on jobRxiv: https://jobrxiv.org/job/fondazione-istituto-italiano-di-tecnolog...
https://jobrxiv.org/job/fondazione-istituto-italiano-di-tecnologia-27778-machine-learning-approaches-in-preclinical-phenotypes-phd-position/?feed_id=64917
Innovative Genomics InstituteHot off the presses: our 2023 overview of #CRISPR in clinical trials! Reader-friendly. Read here & share: http://ow.ly/wj4W50NlJcm
#GeneticDisease #genetics #genomics #RareDisease #cancer #SickleCell #HIV #UTI #DMD #leukemia #lymphoma #diabetes #research #innovation
Thiago CarvalhoIn Aicardi-Goutières syndrome patient samples
"Using machine-learning approaches and differential gene expression we identified a drastic loss of transcription factor hypoxia induced factor 1 alpha (HIF-1a) expression and activity associated with features of a metabolic switch and mitochondrial stress in monocytes/dendritic cells."