A new genome-wide mapping method finally shows how thousands of genes connect to drive disease. Biomedical researchers are working intensively to identify the genes that contribute to disease, with ...

Maturity-onset diabetes of the young (MODY) is an autosomal dominant monogenic form of diabetes. This report describes a case with hepatocyte nuclear factor 1-alpha ( HNF1A )-MODY due to a novel ...

Tatiana Schlossberg, the youngest granddaughter of President John F. Kennedy, recently revealed she was diagnosed with terminal acute myeloid leukemia (AML) due to a rare genetic anomaly. In a ...

In many aspects of our lives, we find meaning in the order in which events occur. We buy into myths about "middle child syndrome," talk of calm before storms, and consider it strange to start a meal ...

As language models learn to interpret words in a sentence, protein language models learn how amino acids work together within a protein. Konstantina Tzavella, who used artificial intelligence in her ...

Researchers at Monash University in Melbourne, Australia, have uncovered the hidden code governing how genetic mutations affect RNA splicing and result in disease. The researchers were able to ...

Advanced biotechnology repurposes two bacterial immune systems to correct large stretches of DNA. Human cells that have been edited with the new retron-based gene editing technology. Orange dots mark ...

Human semen not only accumulates genetic mutations with age; as the percentage of sperm carrying potentially serious mutations increases, so does the risk of developing diseases in offspring. This is ...

A man sits outside and holds a slim menthol cigarette between his fingers. Close-up with focus on the cigarette. The study provided a comprehensive examination of how lifestyle and environmental ...

Two key gene variants may have made early domesticated horses more tame and more physically resilient to bearing a rider, researchers report August 28 in Science. The resulting horses were among the ...

It began quietly, tucked away in the immune systems of a few dozen people scattered across the globe. They weren't superheroes. They didn't wear capes. But they carried something extraordinary, an ...

A rare genetic mutation that causes a deficiency in an immune regulator called ISG15 is known to make people more vulnerable to some bacterial infections and cause persistent inflammation — but it can ...