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 ...

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 ...

New technology enables the insertion of a large segment of DNA into a genome, potentially expanding gene therapy treatment ...

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 ...

A groundbreaking study has uncovered how specific genetic mutations influence cancer treatment outcomes -- insights that could help doctors tailor treatments more effectively. The largest study of its ...

Aplastic anemia is a rare, life-threatening blood disorder where patients are unable to make enough blood cells due to the immune system's attack on blood stem cells. The condition can progress to ...

Study in adults and children with aplastic anemia identifies parallel evolutionary pathways used by hematopoietic stem cells to evade immune attack.

A new study suggests a gene mutation could have a protective effect against Alzheimer's. The research looked specifically at blood stem cells, which live in the bone marrow and make different types of ...

Tests in 1,225 patients with the most deadly form of skin cancer reveal for the first time a genetic trait among most of those who did not respond to the latest cancer treatments, known as immune ...

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, ...