Progeria is an ultra-rare and fatal disease that causes rapid aging in children, and Sammy Basso, a research advocate who is known for living with vigor and humor even in the face of the certainty of early death. He passed away on October 5th near his home in Tetzsle. Brenta is located in the Veneto region of northern Italy. He was 28 years old.
Dr. Leslie B. Gordon, medical director of the Progeria Research Foundation, of which Basso is a global ambassador, said the cause was a complication of the disease. Basso was the longest-surviving known progeria patient.
Basso, who lived with her parents, was diagnosed with progeria at the age of two.
He was one of only about 150 people worldwide confirmed to have the condition. He travels abroad to raise awareness, most recently visiting China. Gave a TED talk. He joined a research group working with scientists from Harvard University and the National Institutes of Health to find a cure.
“When you watch Sammy’s presentation, you can’t help but be captivated by his courage, bravery, smarts, and sense of humor,” said Francis S. Collins, former NIH director and longtime progeria researcher. he said in an email. .
Progeria, also known as Hutchinson-Gilford progeria syndrome, rapidly accelerates aging in children. The effects include baldness, wrinkled skin, hardening of the arteries, and shriveled stature. Mr. Basso was approximately 4 feet 5 inches tall and weighed about 44 pounds.
At the same time, the average life expectancy of a person with this disease is 14.5 years, and aging does not occur.
Basso, who was profiled in The New York Times in 2022, joked that mental clarity in the face of premature death is either a “blessing or a curse.”
The profile noted that Basso, who founded the Italian Progeria Association Sammy Basso, has become “one of Italy’s most famous defenders of science and human dignity, regardless of age.” He received a call from Pope Francis when he was in high school and was knighted by Italian President Sergio Mattarella in 2018.
He inspired Sammy’s Runners, a group of friends who run marathons in wheeled chariots to raise awareness of progeria.
He was also a bit of a prankster. He once wore green “alien” glasses that accentuated his egg-shaped head to fool tourists into thinking he was a real space visitor outside the UFO Museum in Roswell, New Mexico. I have posed before.
“He made everyone around him feel safe about him and about progeria,” Dr. Gordon said. “All he had to do was say two words and you’d be smiling and laughing.”
Sammy Basso was born on December 1, 1995 in Schio, Italy, to Amerigo Basso, a factory worker, and Laura Lucchin, who helped run the Progeria Association. His parents are his only survivors.
At the age of 12, Sammy participated in the first clinical trial of a drug to slow the progression of progeria at Boston Children’s Hospital.
Collins credited Basso’s relatively long life to the drug lonafarnib, which has since been approved by the Food and Drug Administration, as well as the fact that he was “very careful about taking care of his own health.” He said there was.
He graduated with a degree in natural sciences from the University of Padua in 2018, and three years later received a master’s degree in molecular biology from the same university.
Mr. Basso was a patient, a research subject, and a researcher of his condition.
“The fact that the science of progeria has advanced so much is partly due to Basso himself,” the medical news site Stat wrote after his death.
The latest frontier in progeria research is gene editing technology developed by Dr. Collins and Dr. David Liu of Harvard University. It would repair the mutated genes that cause progeria and reverse aging in progeria. Scientists have shown that the technique also works in mice.
The US-based Progeria Research Foundation is working toward approval for human trials by the FDA and is investing an estimated $30 million to produce the drug privately, as ultra-rare diseases are of no interest to commercial drug companies. I am thinking of procuring it.
Progeria affects about 1 in 20 million people. At the same time, there are approximately 7,000 genetic diseases with known mutations, 85% of which are also ultra-rare diseases, affecting less than 1 in 1 million people. It is hoped that breakthroughs in progeria will help point the way to treatments for other diseases.
Researchers, including Dr. Collins and Dr. Gordon, have video calls every Monday. Mr. Basso will also be participating from Italy. He kept the group’s minutes and participated in scientific deliberations.
He once told the Times that he hoped his high profile would encourage people with progeria to seek treatment and avoid despair.
“What I want them to learn from my experience is that their lives matter,” he said. “They could be of use to the world.”
