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 ...

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, ...

Tatiana Schlossberg, the youngest granddaughter of President John F. Kennedy, recently revealed she was diagnosed with terminal acute myeloid leukemia (AML) due to a rare genetic anomaly. In a ...

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 ...

Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism by which brain cells die. A team led by scientists at the German research ...

Thousands of previously “invisible” microproteins—tiny chains of fewer than 100 amino acids—can profoundly change human biology when mutated. A fundamental discovery is overturning decades of ...

Meet the luckiest people on Earth — individuals carrying a rare genetic mutation that prevents wrinkles from forming even as they age well into their 80s. These genetic lottery winners have provided ...

A man sits outside and holds a slim menthol cigarette between his fingers. Close-up with focus on the cigarette. The study provided a comprehensive examination of how lifestyle and environmental ...

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 ...

Most people typically get between seven to nine hours of sleep each night. Now, science says some people could thrive on just four hours of sleep, feeling completely rested and ready to go. It sounds ...

An affordable new BRCA gene test has hit the market, but who should take it? — -- A new genetic testing kit that hits the market today is the most affordable, and arguably one of the simplest, ...