Researchers say a new AI system can identify disease-causing mutations and explain their biological effects, potentially ...
For decades, the standard explanation for autoimmune diseases like rheumatoid arthritis has rested on two pillars: inherited ...
A seminal study from researchers at the Icahn School of Medicine at Mount Sinai and their collaborators in the United Kingdom, Belgium, Spain, the Netherlands, and Iceland has uncovered a new genetic ...
The IQSEC2 gene encodes a guanine nucleotide exchange factor (Arf-GEF) that plays a critical role in synaptic regulation and neuronal development. Mutations in IQSEC2 have emerged as a significant ...
A new platform for studying mtDNA mutations implicated in human disease could help accelerate treatments for mitochondrial ...
A new Nature study suggests DNA mutations in immune cells may drive autoimmune diseases by removing immune system brakes, ...
In 2025, baby KJ Muldoon became the first person to receive a personalized gene editing treatment, which likely saved his ...
What causes autoimmune disease? A new study finds that somatic mutations in immune checkpoint genes like PDL1 trigger the ...
Scientists have identified several new genetic mutations linked to a rare neurodegenerative disease called CSF1R-related disorder (CSF1R-RD). The disease is gaining recognition as the use of genetic ...
Scientists at the Broad Institute of MIT and Harvard, Harvard Medical School, and McLean Hospital have discovered a surprising mechanism by which the inherited genetic mutation known to cause ...
New research suggests that autoimmune diseases may be driven by DNA mutations in immune cells that remove the natural brakes ...