Emily Kramer-Golinkoff can’t get enough oxygen with each breath. Advanced cystic fibrosis makes even simple things like walking or showering arduous and exhausting. She has the most common fatal ...

Among the most famous demonstrations of genetic mutations driving infection outcome is severe combined immunodeficiency (SCID ...

Researchers are adding new evidence to the emerging concept that 'silent' or synonymous mutations may have crucial consequences. Their study showed how a synonymous mutation in one gene can ...

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 research team in Japan has developed an innovative system that can accurately detect genetic mutations in the brain tumor within just 25 minutes. Genetic mutations are crucial markers for diagnosis ...

A graph-based computational tool for detecting previously invisible genetic mutations has been developed. Researchers at the University of California, Los Angeles (UCLA; USA) and the University of ...

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

Investigators have unveiled for the first time that changes in certain genes affect an aggressive cancer, T-cell acute lymphoblastic leukemia (T-ALL), differently depending on genetic ancestry. The ...

Human cells usually contain two copies of most genes, one of which comes from the mother while the other comes from the father. It's long been thought that usually these two copies, or alleles of ...