Sammy Basso (1 December 1995 – 5 October 2024) was an Italian biologist and patient of progeria disease and one of the oldest known survivors of the disease. He leveraged his unusual appearance, a result of his terminal illness, to great social and emotional advantage, while lending an optimistic face to campaign for an extremely rare, life-threatening and terminal genetic disease.[1] Progeria sufferers usually die in their early teens. Basso also took part in clinical trials that he carried out research for.[1]
Early life and education
editBasso was born in 1995 in Schio, Italy, and grew up in Tezze sul Brenta, a small town near Venice. At the age of 2, he was diagnosed with progeria, also known as Hutchinson-Gilford syndrome, a rare genetic disorder that accelerates aging. In the world a mere 130 cases of progeria have been recognized.[1] Since the age of 5 he was a friend of Sam Berns, a person with the same condition. Despite the challenges, his family encouraged him to attend school and participate in everyday activities. He earned a master’s degree in molecular biology, contributing to significant research efforts aimed at understanding and treating the disease.[1]
Youth
editThrough research on the Internet, Sammy's family found an American association, the Sunshine Foundation,[2] and began, in 2000, to participate in the world meetings that it organises every year for families with children with progeria. In addition, the family also started to attend European meetings organised by the Dutch association Progeria Family Circle in 2002. At the meetings organised by the American associations, exchanges between the families of children affected by this disease are encouraged, while at the meetings of the European associations, it is possible for families and doctors dealing with progeria to meet: the various associations play a central role in promoting the exchange of knowledge between doctors and doctors, communication between doctors and parents, and the sharing of experiences between parents.
Immediately after graduating from Liceo Scientifico Jacopo Da Ponte in Bassano del Grappa,[3] Sammy took a trip to the United States with his parents, Laura and Amerigo, and his friend Riccardo, travelling along U.S. Route 66 from Chicago to Los Angeles. Basso documented this trip by writing a book, Il viaggio di Sammy (Sammy's Journey), and recording some episodes that were broadcast by the Nat Geo People channel.
In the 2014-2015 academic year, he enrolled in the Physics degree programme at the University of Padua: his dream, once he had completed his studies, was to work at CERN in Geneva.[4]
On 13 February 2015, he was invited as a guest to the 65th edition of the Sanremo Festival, speaking about his illness.[5][6]
Instead, he enrolled the following year in a degree programme in Natural Sciences with the intention of further researching progeria once he had completed his studies. On 17 July 2018, he graduated with a Bachelor of Science degree in natural sciences with 110 cum laude,[7] while on 24 March 2021, he obtained a Master of Science degree in Molecular Biology in English.[8]
On June 7, 2019, he received the insignia of the Knighthood of the Order of Merit of the Republic,[9] of which he had been awarded motu proprio by the President of the Republic Sergio Mattarella.[10]
Contributions to scientific research
editDuring their first trip to the United States, Sammy's parents had the opportunity to meet the parents of Sam Berns, another boy suffering from progeria, to whom we owe the establishment of the Progeria Research Foundation.[11] On that occasion, the Basso family contributed to the activation of a bank of cell lines that can be used by those wishing to carry out research on progeria. This availability together with the progress of studies on the disease in 2003 led to the discovery of the gene affected by the mutations responsible for progeria:[12] this pathology is due to the mutation of the LMNA gene responsible for the production of two proteins: lamins A and C; the mutation causes the production of truncated lamins A, called progerins, which cause the premature ageing typical of the disease.
In 2006, the Basso family also joined a progeria clinical study programme at the National Institutes of Health in Bethesda, Maryland,[13] where the Human Genome Research Institute (NHGRI) is based. At that centre, the complete collection of data on Sammy's organs and apparatuses was carried out for the first time for research purposes. As a result of this programme, an experimental drug, Lonafarnib, a transferase inhibitor, was developed that might be able to slow down the course of the disease. This allowed the first clinical study of 28 children (including Sammy) with progeria to be carried out in Boston in 2007. This was followed by a second, also in Boston, and a third in Marseille.
Death and legacy
editIn the day before his death, he was actively communicating. He collapsed and died due to suspected cardiovascular complications, on 5 October 2024, at the age of 28.[1]
Francis Collins, Basso's senior research colleague and companion said: "We all knew that Sammy had a terrible circumstance that was not going to allow him to live a full life. But he was so vibrant. He was so alive. He was so engaged, I was so stunned". On a personal level, Basso called Progeria "a small part of my life, because it only affects the body".[1]
References
edit- ^ a b c d e f Goodyear, Sheena (10 October 2024). "'There's nobody like him': Sammy Basso, longest survivor of rapid ageing disease, dies at 28". CBC. Retrieved 11 October 2024.
- ^ "Sunshine Foundation".
- ^ Summit di genetisti europei sulla malattia di Sammy (in Italian). Il Gazzettino.
- ^ "Sanremo 2015, Sammy Basso ospite. Ascoltate ogni parola e fatela vostra" (in Italian). Il Fatto Quotidiano. 13 February 2015. Retrieved 5 February 2019.
- ^ "Sammy Basso: il mio viaggio nel cuore della vita" (in Italian). Famiglia Cristiana. Retrieved 12 June 2016.
- ^ ""Sfido la malattia e vado a Sanremo con il mio ottimismo" (FOTO)" (in Italian). L'Huffington Post. Retrieved 10 June 2016.
- ^ ""Sammy Basso si laurea in Scienze con 110 e lode: un'altra vittoria per il ragazzo affetto da progeria"" (in Italian). La Repubblica.
- ^ "Sammy Basso si laurea per la seconda volta: magistrale in Molecular Biology" (in Italian). 25 March 2021. Retrieved 27 March 2021.
- ^ "Sammy Basso cavaliere della Repubblica" (in Italian). La Repubblica. 7 June 2019. Retrieved 7 June 2019.
- ^ "Le onorificenze della Repubblica Italiana" (in Italian). Retrieved 8 June 2019.
- ^ "Progeria Research Foundation | Our Story" (in Italian). Retrieved 10 June 2016.
- ^ Ronald Klatz (September 1, 2009). The Official Anti-Aging Revolution: Stop the Clock Time Is on Your Side for a Younger, Stronger, Happier You. ReadHowYouWant.com. ISBN 9781458721839. Retrieved 10 June 2016.
- ^ "Morto Sammy Basso, aveva 28 anni. La sua vita con la progeria" (in Italian). October 6, 2024. Retrieved October 11, 2024.