1.5 Genetic Mutations and Inheritance

From Gametes to Zygote

Meet Sam Berns

Sampson Gordon "Sam" Berns (October 23, 1996 – January 10, 2014) was an American teen who had progeria and helped raise awareness about the disease. He was the subject of the HBO documentary Life According to Sam, which was first screened in January 2013. He died one year later, after appearing in a TEDx Talks video titled "My philosophy for a happy life."

Progeria affects approximately one in every 4 million to 8 million infants; there are only about 200 children living with it worldwide. The genetic mutation tied to it causes those with the disease to produce the protein progerin, which blocks normal cell function. As they age rapidly, these children suffer from a loss of body fat and hair and an inability to gain weight. They are prone to developing osteoporosis, a disease where bones become weak and are more likely to break.