A Canadian biomedical researcher who helped to revolutionize the treatment of cystic fibrosis is among the latest winners of the Breakthrough Prize, the world’s largest award for advances in physics, mathematics and biomedicine.
Fred Van Goor, who was born and raised in Calgary, was named a co-recipient of a Breakthrough Prize in life sciences together with Sabine Hadida and Paul Negulescu. All three are colleagues at Vertex Pharmaceuticals in San Diego.
Their award, worth US$3-million, was announced on Thursday by the Breakthrough Prize Foundation.
Starting in the early 2000s, the trio led the development of a combination of drugs that can repair the faulty protein that causes cystic fibrosis, providing an effective treatment to more than 90 per cent of those afflicted with the life-threatening disease.
Learning of the prize “was a total surprise. We’re super honoured and humbled by it,” Dr. Van Goor said, adding that the groundbreaking research that led to the award was only the first step in a long road to get the drugs to patients.
The son of a physician, Dr. Van Goor said his scientific journey began when he was a student at the University of Alberta, where he intended to study medicine and instead became captivated by the world of research.
“I just fell in love with the whole idea of figuring out how things work that are totally unknown to anybody,” he said.
After earning a PhD studying how the brain regulates growth and reproduction in goldfish, he moved to the U.S. National Institutes of Health in Bethesda, Md., where he conducted studies involving hormone secretion in rats. It was work that could have kept him on a conventional academic track, he said, but “I wondered what industry would be like. ... I wanted to try it out.”
It was at Vertex that he took on the challenge of fixing CFTR, a protein that projects through the membrane of cells and, in healthy individuals, helps the body produce mucus, saliva and sweat. Because of genetic variations, patients with cystic fibrosis produced malformed CFTR, leading to the buildup of mucus in various organs, including the lungs.
At at time when other scientists were looking at ways to address the underlying genetic cause, the Vertex team instead decided to fix the protein and restore its function. The approach was to test millions of compounds in laboratory studies using high-throughput techniques and zero in on a handful that showed some promise.
“They were on a fishing expedition,” said Igor Stagljar, a molecular biologist at the University of Toronto who studies the interaction of CFTR with other proteins. “Nobody knew that this would result in drugs that act as chaperones and basically repair CFTR.”
By 2012, Dr. Van Goor and his colleagues had their first successful drug, known by the trade name Kalydeco. It proved effective in a small subset of cystic fibrosis patients but paved the way to further drug combinations that address a wider variety of genetic mutations found in many more individuals with the disease.
“They really deserve it,” Dr. Stagljar said of the team’s prize. “This is a major breakthrough in the treatment of a devastating disease.”
Four other Breakthrough Prizes were announced on Thursday, including one for Carl June of the University of Pennsylvania and Michel Sadelain of the Memorial Sloan Kettering Cancer Center in New York for their development of CAR-T immune therapy to treat cancer. Dr. Sadelain, who was born in France, also earned his PhD at the University of Alberta.
A third life sciences prize was awarded to Thomas Gasser of Germany, together with Ellen Sidransky and Andrew Singleton, both of whom are based in the United States, for their work in discovering the most common genetic causes of Parkinson’s disease.
John Cardy and Alexander Zamolodchikov, quantum field theorists from Britain and Russia, respectively, were awarded the Breakthrough Prize in physics while German mathematician Simon Brendle was the sole winner of the Breakthrough Prize in mathematics.