Three scientists have received a $250,000 award for their contributions to the development of life-saving therapy for the genetic disease cystic fibrosis (CF).
Called the Lasker-Debakey Clinical Medical Research Award, the award was sent to Dr. Michael Welsh, Paul Negulescu of Vertex Therapeutics, and González (Tito) González of Integro Theranostics. This is one of the Lasker Awards of the year. This was the Biomedical Research Award in 1945, often referred to as the “American Nobel.”
“It’s very satisfying,” said González, formerly a senior director of biology at Vertex Therapeutics. “It’s very rare to actually have something [in medical research] It will last for patients, become widely available and have such a dramatic effect,” he told Live Science.
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This treatment, called Trikafta, extends the lifespan of CF people by decades. And patients who start treatment in childhood or adolescence are expected to be close to their average lifespan. By comparison, when the disease was first discovered in the 1930s, most patients died in childhood. Even in the 2010s, even before Tricahuta’s approval in 2019, about half of CF patients died before the age of 40.
“Today, the estimated age of survival for people with cystic fibrosis who are born between 2020 and 2024 and can receive treatment is 65 years,” wrote Dr. Eric Sauche, PhD, of Emory University, in an essay about the awards published in the New England Journal of Medicine. “Available predictions suggest that health and longevity could further increase as modulators begin to be administered at younger ages.”
The Lasker Award “has brought many great memories and really warms your heart when you consider all the people you worked with and all the time and effort,” added González. “I hope people realize how difficult it is to get here.”
Related: Scientists discovering body “fire alarm” against bacterial invasion win a $250,000 Lasker Award
CF is a hereditary disorder caused by mutations in the gene called CFTR. When functioning, genes can create cells inside a membrane where particles called ions can flow. This helps water flow through the tissue and helps organs like the lungs, intestines and pancreas do their job properly.
However, in CF, malfunctioning of the CFTR gene causes thick, sticky mucus to clog the lining of these organs. Mucus can run up the airways, increasing the risk of dangerous lung infections and scarring, causing problems with digestion, nutrient absorption and insulin signaling.
Laboratory research conducted by Wales in the 1980s and 1990s helped lay the foundation for Trikafta, a drug that addresses the molecular causes of most types of CF. Working with cells from the airways of sick people, Gonzalez explained that Wales and colleagues have unraveled the “physiological consequences” of the most common genetic errors found in people with CF, Gonzalez explained.
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Their study demonstrated that this defect in the CFTR gene (known as Delta-F508) prevents charged particles from passing through tubes in the cell membrane. Mutations mean that the tube does not actually reach the surface of the cell, which causes the ions to get stuck. In various experiments, including cooling cells as they grew in lab dishes, Wales showed that they could make tubes to reach the cell surface and thus transport ions better.
Meanwhile, as a postdoctoral scholar in the lab of Nobel Prize-winning Roger Zien, Gonzalez co-invented a system that allows accurate tracking of ions across cell membranes in real time. The first inspiration behind the system was to study how the brain functions, allowing ions across the membrane to fire brain cells, he said. However, the system was also ideal for testing potential new CF drugs designed to fix ion transport problems.
“This allowed us to screen tens of thousands of compounds a day,” Gonzalez said. “Electrophysiology was a standard method of studying ion channels in detail at the time, very slow, only a handful.”
Researchers have improved the process of hunting CF drugs at Biotech Company’s Aurora Biosciences.
Also, Aurora and the top of the post, NeveScu led a project to screen molecules to see how it affected ion transport. His team looked for “potentiometers” and “correctors” that would help boost the flow of ions. This helps to move the tube into the correct position of the cell membrane. This initiative led to the approval of Trikafta in 2019 after several repetitions of CF drugs were approved in 2012, 2015 and 2018.
When they began retrieving data from early human trials of their first generation drugs, Gonzalez said, “It was very exciting because it became so realistic. “Oh, this isn’t just a theory. This actually works with patients.”
Trikafta combines three drugs to effectively treat most people with CF. According to a statement from the Lasker Awards, its use reduced the number of lung transplants and hospitalizations for infections, improving the quality of life for patients.
“The achievements of Wales, Gonzalez and Negalesh give CFs the opportunity to thrive now and plan a vibrant future,” the statement said.
Two additional Lasker Awards were awarded this year. One is one for basic research and the other is a special achievement in medicine.
The former awards were sent to Dirk Goullich of the Max Planck Institute at the Max Planck Institute in Germany, and Stephen McKnight at the University of Texas Southwest Medical Center. These two researchers uncovered the heterogeneous role of low complexity domains (complex regions of protein sequences), the key to how cells organize internal organs, and investigated how their tissues shaking in disease.
The latter award was sent to Stanford University’s Lucy Shapiro, who recognized her 55-year career in biomedical sciences. Meanwhile, she reconstructed biologists’ understanding of how bacterial cells divide and develop. In particular, her research highlighted the importance of spatial tissue within bacterial cells and how this relates to the way it works internally. She is also recognized as the founding director of Stanford’s Faculty of Developmental Biology, founded in 1989, and as a leading consultant for global leaders on issues such as antibiotic resistance, emerging infectious diseases, and biological warfare.
This article is for informational purposes only and is not intended to provide medical advice.
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