Sammy Basso dies: Progeria activist was 28 years old

One of the best-known advocates for people suffering from the rare hereditary disease progeria is dead: the activist and biologist Sammy Basso died on Saturday at the age of 28. “Today our light has gone out,” said the progeria foundation Aiprosab, which he founded. “We thank you, Sammy, for making us a part of your wonderful life.”

Sammy Basso, the foundation continues, “taught us all that it is worth living life to the fullest, even if the obstacles in life sometimes seem insurmountable.” In the hereditary disease progeria, a protein called lamin A is shortened, which is important, among other things, for the stability of the structure of the cell nucleus.

Progeria causes the body to age five times faster

The defect causes those affected to age about five times faster than usual: Even as children, they lose all their hair, their skin becomes thin and translucent, their physical growth is impaired – they rarely grow more than one meter tall. The average life expectancy with progeria is around 14 to 15 years.

Basso was born in Schio in northern Italy in 1995. From the age of two months he suffered from various symptoms that the doctors were unable to categorize for a long time. After six months, they noticed an abrupt slowdown in growth. It wasn’t until Sammy was two years old and his parents called in hereditary disease experts that he was properly diagnosed with the disease.

The family then exchanged information internationally with other affected people. Even as a child, Sammy began to get involved in helping others with the genetic defect. It was always important to him not only to raise awareness of progeria, he also wanted to advance research. That’s why he initially studied natural sciences and then added a degree in molecular biology in 2018. He also wrote a paper about therapies to slow the progression of the disease.

For a century, the disease was ignored by researchers

The rare hereditary disease progeria was first diagnosed in 1886 and is also called Hutchinson-Gilford progeria syndrome (HGPS) after its discoverers. Then not much happened for more than 100 years. This is one of the problems faced by people suffering from rare diseases. Because they are so rare, they are not high on researchers’ priority lists. That’s why in 1999 a pediatrician whose child suffered from the disease founded the Progeria Research Foundation (PRF) in the USA, which promoted research with scientific programs. Sammy Basso also supported the foundation as an international PRF ambassador.

Research has made progress in recent years. In 2003, the defective gene behind the disease was decoded, and in 2007 research began on a drug that was approved in the USA in 2020 and in Germany in 2022: Lonafarnib. The active ingredient ensures that less defective progerin is formed from the shortened protein lamin A and is deposited in the cells. The drug cannot cure the disease, but patients no longer age as quickly: life expectancy increases by around three to four years.

Sammy Basso became famous through a National Geographic documentary

Basso became known through the National Geographic documentary “Il viaggio di Sammy”. There he reported on a trip to the USA that Basso had taken with his parents and one of his best friends. Traveling on Route 66 was a long-held dream of Sammy Basso, which he fulfilled after graduating from school. There he also met the founders of the PRF. He was also often seen on Italian television.

Sources: DPA, , ,