Scientists at La Jolla Institute for Immunology (LJI) have discovered how a mutated gene kicks off a dangerous chain of events during blood cell production. "We know that many diseases—and all cancers ...

The human genetic code is fully mapped out, providing scientists with a blueprint of the DNA to identify genomic regions and their variations responsible for diseases. Traditional statistical tools ...

Could one genetic mutation be sufficient to bring on complex psychopathology? For decades, dominant models of mental ...

Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...

A vanishingly rare genetic glitch in a single enzyme can erase a newborn’s brain cells in a matter of weeks, leaving doctors ...

Researchers at the Icahn School of Medicine at Mount Sinai and others have identified a neurodevelopmental disorder, caused by mutations in a single gene, that affects tens of thousands of people ...

Most mutations that cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a major study of human protein variants that was published in Nature ...

What if doctors could look at a person’s DNA and not only spot a harmful mutation, but also predict the kind of disease it may cause—before symptoms fully appear? Scientists at the Icahn School of ...

New York, NY [December 15, 2025] —Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence tool that not only identifies disease-causing genetic ...

During development of the digestive system, a complex network of nerves forms around it, creating a "second brain"—the ...

The PhD student with a background in physics, is not only focused on the performance of statistical models for genomic predictions but is also keen on understanding the underlying biological ...