One example is Down syndrome, in which the person has an extra copy of the genes found in chromosome 21. Not all mutations make a difference. Some "silent" mutations don’t change how the protein ...

POLG-related diseases disrupt the function of the mitochondria, or "powerhouses" of the cell — starving them of energy.

Gene mutations in acute myeloid leukemia (AML) cells can guide treatment options, and machine learning can rapidly guess the ...

A new study published in PLOS Genetics has identified an extreme mutational hotspot within the genome of Pseudomonas ...

The small study in patients with a rare disorder that causes liver and lung damage showed the potential for precisely ...

a distinguished professor in the Department of Molecular Genetics and Microbiology whose work specializes in repeat expansion mutations and their role in neurodegenerative disorders. "The impact ...

a distinguished professor in the Department of Molecular Genetics and Microbiology whose work specializes in repeat expansion mutations and their role in neurodegenerative disorders. "The impact ...

Having two copies of the MTHFR gene mutation may raise your risk for certain health conditions, though more research is needed. You may have the mutation and not find out unless you undergo ...

DNA segments that can move from one part of the genome to another -- are key to bacterial evolution and the development of antibiotic resistance. Researchers have discovered a new mechanism these ...

However, Dr. Segil says there is an existing test for Alzheimer’s disease, called the APOE4 gene test or just APOE test. The ...

In most cases, females possess two X chromosomes, while males have one ... in each generation which helps to eliminate damaging gene mutations," Darren Kent, a professor at the University of ...

Hearing impairment affects millions globally, with genetics playing a major role in infant hearing loss. Early screening and ...