The NF-κB signaling pathway plays a pivotal role in how our bodies fight infection, heal, and regulate inflammation. At the heart of this pathway is the NEMO protein, encoded by the IKBKG gene. When ...

Simply sign up to the Artificial intelligence myFT Digest -- delivered directly to your inbox. Scientists have built an artificial intelligence model to flag if previously unknown human genetic ...

KJ Muldoon wasn’t supposed to make it to his first birthday. He was born in August 2024 with carbamoyl phosphate synthetase 1 deficiency, a genetic disorder that afflicts about 1 in 1.3 million ...

Iain Cheeseman and colleagues reveal the underappreciated role of single genes producing multiple proteins in atypical presentations of rare disease, and present case studies of affected patients ...

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 ...

Two parallel and complementary studies conducted by the IDIBELL team led by Dr. Alessandra Giorgetti have succeeded in recreating models of GATA2 deficiency disease, a rare genetic disorder that ...

As we age, our cells accumulate DNA mutations. If any of these mutations confer a growth advantage to a self-renewing or long-lived progenitor cell, its lineage can expand. The progenitor cells that ...

A new gene-editing technique enables the correction of multiple genetic mutations simultaneously, transforming the prospects for millions living with complex inherited diseases, such as cystic ...

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 ...