This year's Lasker-DeBakey Clinical Medical Research Award recipients are (from left) Jesus (Tito) Gonzalez, Dr. Michael Welsh, and Paul Negulesco. (Photo courtesy of Jesus Tito Gonzalez; Michael Welsh; Dina Rudick, Anthem Multimedia)
Three scientists have received a $250,000 prize for their contributions to the development of a life-saving therapy for the genetic disease cystic fibrosis (CF).
The Lasker-DeBakey Award for Clinical Medical Research was presented to Dr. Michael Welsh of the University of Iowa, Paul Negulesco of Vertex Therapeutics, and Jesus (Tito) Gonzalez of Integro Theranostics. It is one of this year's Lasker Awards, biomedical research prizes established in 1945 and often referred to as “America's Nobels.”
“It’s incredibly gratifying,” said Gonzalez, who previously served as senior director of biology at Vertex Therapeutics. “It’s very rare for something [in medical research] to reach patients, be widely available, and have such a dramatic effect,” he told Live Science.
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The treatment, called Trikafta, extends the lives of people with cystic fibrosis by decades. Patients who start treatment as children or adolescents are expected to live nearly as long as those who do. By comparison, when the disease was first discovered in the 1930s, most patients died in early childhood. And even in the 2010s, before Trikafta was approved in 2019, about half of cystic fibrosis patients died before age 40.
“Today, the estimated median survival age for people with cystic fibrosis born between 2020 and 2024 who have access to treatment is 65 years,” Dr. Eric Sorscher of Emory University wrote in an essay about the award published in The New England Journal of Medicine. “Currently, health and life expectancy are projected to improve even more if modulators are started at a younger age.”
The Lasker Award “also brings back a lot of great memories, and it really warms your heart when you think about all the people you worked with and all the time and effort you put in,” Gonzalez added. “I just hope people understand how hard it is to go through this.”
Cystic fibrosis is an inherited disorder caused by mutations in the CFTR gene. This gene, when active, allows cells to form channels within their membranes that allow charged particles called ions to pass through. This, in turn, allows water to flow through tissues normally and helps organs such as the lungs, intestines, and pancreas to do their jobs properly.
However, in cystic fibrosis, the CFTR gene does not work correctly, causing thick, sticky mucus to form and clog the lining of these organs. The mucus clogs the airways, increasing the risk of dangerous infections and scarring of the lungs, and can interfere with digestion, nutrient absorption, and insulin signaling.
Welsh’s lab work in the 1980s and 1990s helped lay the groundwork for the drug Trikafta, which targets the molecular cause of most types of cystic fibrosis. By working with airway cells from people with the disease, Welsh and his colleagues uncovered the “physiological consequences” of the most common genetic error seen in people with cystic fibrosis, Gonzalez said.
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Their work demonstrated that this defect in the CFTR gene, known as delta-f508, makes it difficult for charged particles to pass through tubes in the cell membrane. The mutation means that the tubes don’t actually reach the cell surface, and the ions get stuck. In various experiments involving cooling cells while they grow in lab petri dishes, Welsh showed that the tube can reach the cell surface and thus better transport ions.
Meanwhile, as a postdoc in the lab of Nobel laureate Roger Tsien, Gonzalez co-created a system that could precisely track the flow of ions across cell membranes in real time. The original idea, he says, was to study how the brain works, since ions moving across membranes are what activate brain cells. But the system was also ideal for testing potential new drugs for cystic fibrosis that target ion transport problems.
“This allowed us to screen tens of thousands of compounds a day,” Gonzalez said. “Whereas electrophysiology, the standard method at the time for studying ion channels in depth, was very slow, only a few compounds a day.”
Researchers improved the process of finding drugs for cystic fibrosis at the biotech company Aurora Biosciences, which was later acquired by Vertex Pharmaceuticals.
Negulescu, who also worked at Aurora and later Vertex, led a project to screen molecules to study their effects on ion transport. His team looked for “potentiators” that enhance ion flow and “correctors” that help move tubes into the correct positions in the cell membrane. These efforts led to the approval of several versions of cystic fibrosis drugs — in 2012, 2015, and 2018 — before finally approving Trikafta in 2019.
Gonzalez recalls that when they started getting data from the very first human trials of the first-generation drug, “it was incredibly exciting because it was real. We thought, ‘Wow! This isn’t just a theory; this actually works in patients.’”
Trikafta combines three drugs that provide effective treatment for most patients with cystic fibrosis. Its use has reduced the number of lung transplants and hospitalizations for infections among patients with the disease, and improved the quality of life for patients, according to the Lasker Prize statement.
“The achievements of Welsh, Gonzalez and Negulesco give people with cystic fibrosis the opportunity to succeed now and plan for a brighter future,” the statement said.
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This year, two more Lasker Awards were presented: one for basic research and one for outstanding achievements in medical science.
The prize was awarded to Dirk Goerlich of the Max Planck Institute for Interdisciplinary Sciences in Germany and Stephen McKnight of the University of Texas Southwestern Medical Center. The two researchers have uncovered the unsung role of low-complexity domains – complex stretches of protein sequences – that play a key role in organizing the internal structures of cells, and have also explored how this organization is disrupted in disease.
The latest prize was awarded to Lucy Shapiro of Stanford University in recognition of her 55-year career in biomedical sciences, during which she changed the way biologists think about bacterial cell division and development. In particular, her work revealed the importance of the spatial organization of bacterial cells and its connection to their internal functioning. She is also recognized as the founder and director of Stanford’s Department of Developmental Biology, established in 1989, and as a key adviser to world leaders on issues such as antibiotic resistance, emerging infectious diseases, and biological weapons.
Disclaimer
This article is for informational purposes only and does not provide medical advice.
Nicoletta Lanese. Social Links Navigation. Editor of the Health Channel.
Nicoletta Lanez is the Health Editor at Live Science and previously served as the site’s news editor and staff writer. She holds a certificate in science communication from the University of California, Santa Cruz, and degrees in neuroscience and dance from the University of Florida. Her work has appeared in The Scientist, Science News, Mercury News, Mongabay, and Stanford Medicine Magazine, among other publications. Based in New York City, she is also an avid dancer and performs in productions by local choreographers.
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