Teenager who illuminated for the public what it is like to live with a rare genetic disease. Born on Oct 23, 1996, in Providence, RI, USA, he died from complications of Hutchinson-Gilford progeria syndrome on Jan 10, 2014, in Boston, MA, USA, aged 17 years.

Sam Berns was diagnosed with progeria, a rare genetic disease marked by premature ageing, when he was 22 months old. For the next 15 years, he and his family catalysed a multidisciplinary effort to find a cure for the disease. About one in every 4 million infants is born with progeria and only about 200 people are living with the disease today. Affected children die from complications related to cardiovascular disease or strokes at an average age of 13 years. In 1999, Sam’s parents, physicians Leslie Gordon and Scott Berns, and his aunt, Audrey Gordon, established the Progeria Research Foundation to study the disease and find a treatment. Leslie Gordon is at the forefront of the research effort to understand the disease and, in 2003, she and her colleagues reported that they had identified the genetic mutation that causes progeria: a single nucleotide change that produces a modified lamin A protein called progerin. After determining the genetic cause of the disease, Gordon and her coworkers developed the first diagnostic test for progeria and, in 2007, began clinical trials of lonafarnib. After 2 years of treatment, nine of the 25 children in the first phase of the trial experienced a more than 50% weight gain; six experienced a more than 50% weight loss, and ten remained at the same weight, according to results published in the