Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence (AI) tool that not only identifies disease-causing genetic mutations but also predicts the type ...

Some clinical trials for treatments that nip Alzheimer’s disease in the bud rely on recruiting carriers of autosomal-dominant mutations who will develop Alzheimer’s disease in a predictable fashion.

Quality of care (QoC) measures among patients with high-risk non–muscle-invasive bladder cancer (HR-NMIBC) who are unresponsive to bacillus Calmette-Guérin (BCG) treatment: A SEER-Medicare analysis.

Germ cell tumors (GCTs) are a heterogeneous group of neoplasms that predominantly affect adolescents and young adults. Notably, geographical disparities in GCT incidence exist, with higher rates ...

Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to ...

The Human Domainome 1—the largest library of human protein variants—reveals the cause of certain genetic disorders, paving the way for personalized medicines. “We measured every possible mutation in ...

A new research paper was published in Volume 16 of Genes & Cancer on January 20, 2025, entitled, "Analysis of pathogenic variants in retinoblastoma reveals a potential gain of function mutation." ...

In genetics, one harmful variant can be enough to cause disease—but two can make it far more severe. One notable example is KJ, an infant diagnosed with a rare urea cycle disorder with a grim ...

What Is the MTHFR Gene Mutation? The MTHFR gene mutation is a variation in the MTHFR gene. This gene normally tells your body how to make the MTHFR protein. You need this protein to process folate, ...

A woman in her late 20s presented with a 5-year history of progressive fatigue and generalised weakness. Examination revealed signs of premature ageing, anaemia, neuropathy and hepatosplenomegaly.