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

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

Acquired DNA mutations found in the SERPINA1 gene can protect liver cells from damage in patients with alpha-1 antitrypsin ...

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

Genetics play a key role in obesity by influencing metabolism, fat storage, and appetite regulation. Certain genes may ...

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

CDKL5, one of the five members of the CDKL family of genes, is important for proper neurodevelopment and associated with seizures. However, the role ...

A new study has identified genetic variants in the ITSN1 gene that significantly increase the risk of developing Parkinson’s disease.

OPGx-MERTK is a gene therapy being developed by Opus Genetics to treat patients impacted by MERTK-related retinitis pigmentosa (RP). Results from a pre-clinical study which evaluated OPGx-MERTK in a ...

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 ...