Genetic variants believed to cause blindness in nearly everyone who carries them actually lead to vision loss less than 30% ...

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, ...

Mutations in the tumor suppressor TP53 are a common cause of cancer, making the altered protein an attractive target for ...

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 ...

Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...

Rett syndrome is a rare developmental disorder, most often due to a mutation in the MECP2 gene on the X chromosome, but it’s not usually inherited. Advances in genetics have launched a new era in ...

A new approach to gene therapy for retinitis pigmentosa may help patients with advanced disease regain vision regardless of which genetic mutation is causing the condition. An optogenetic therapy ...

Deafness, the most common sensorineural hearing loss at all stages of life, occurs either independently or as part of ...

The prothrombin gene mutation increases your risk of severe blood clots. Medications, regular checkups, and healthy lifestyle habits can help reduce this risk. The prothrombin gene plays a crucial ...

Some lucky people have rare genetic mutations that enable them to feel well-rested after just four hours of sleep, while the rest of us need around eight hours to function. Now, researchers have ...