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tag disease medicine neuroscience mutations

Cropped view of senior man playing with puzzles
A Rare Genetic Mutation Protects Against Alzheimer's Disease
Hannah Thomasy, PhD, Drug Discovery News | Sep 17, 2023 | 4 min read
Data from a highly resilient individual guided researchers to new potential therapeutic targets.
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.
Haydeh Payami is wearing a purple dress and an orange and pink scarf and standing in front of a whiteboard.
A Microbial Link to Parkinson’s Disease
Mariella Bodemeier Loayza Careaga, PhD | Dec 4, 2023 | 6 min read
Haydeh Payami helped uncover the genetic basis of Parkinson’s disease. Now, she hopes to find new ways to treat the disease by studying the gut microbiome.
A clinician (off screen) wearing blue gloves presses a diapered infant’s heel against a paper card to collect blood samples.
Did Researchers Really Uncover the Cause of SIDS?
Dan Robitzski | May 18, 2022 | 10 min read
An interesting but preliminary biomarker study’s reception illustrates the challenges of conducting and communicating nuanced research in the era of social media.
Exploring the Past, Present, and Future of Brain Organoids 
Niki Spahich, PhD | Feb 18, 2024 | 5 min read
Paola Arlotta seeks to understand the complex symphony of brain development in vitro by using organoid models.
A three-dimensional rendered image of neuron cell network on black background.
Assembloids Unlock the Roles of Key Neurodevelopment Disease Genes
Aparna Nathan, PhD | Sep 27, 2023 | 3 min read
Brain-like tissue grown in a dish mimics critical periods for development and reveals how it can go wrong.
A mutated cell with a spiky membrane
Mutations in Autism-Linked Gene Cause Membrane Mischief
Holly Barker, PhD, Spectrum | Jan 26, 2023 | 4 min read
Inactivating TAOK1 prompts tentacle-like protrusions to form all over a neuron’s surface, revealing the gene’s role in molding the membrane.
The Breakthrough Prize ?Trophy
2024 Breakthrough Prizes in Life Sciences
Danielle Gerhard, PhD | Sep 14, 2023 | 10 min read
This year’s Breakthrough Prizes honor advances in CAR T cancer therapies, cystic fibrosis, and Parkinson’s disease.
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.
Professor Alexandra Whiteley and graduate student Autumn Matthews look at an image of a western blot on their laboratory computer.
An Ancient Viral Protein May Play a Key Role in ALS
Aditi Subramaniam, PhD | Aug 15, 2023 | 4 min read
Researchers find that UBQLN2 gene dysfunction causes a virus-like protein to accumulate in cells, which changes gene expression and may contribute to disease progression in amyotrophic lateral sclerosis (ALS).

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