| Many people lose family members to cancer. But the number of tragedies in the Ingrassia family has been unusual. Over the years, Lawrence Ingrassia, a veteran journalist at the Wall Street Journal, New York Times and Los Angeles Times, watched his mother, two sisters, brother and nephew die from different forms of cancer. "For a long time, doctors had no answer other than to surmise that our family just had incredibly bad luck," Ingrassia said last week at a conference hosted by the medical news site Stat. Years later, he got an explanation: a mutation in a gene called p53, which plays a key role in fighting cancer, runs in his family. Ingrassia recounts his journey to learn more about his family's medical mystery in a new book, A Fatal Inheritance. As a biotech reporter, Ingrassia's story caught my attention. I often write about genetic medicine — the technology that fixes misspellings in DNA to potentially cure inherited disorders like the one that devastated the Ingrassia family. Gene therapy is already used to cure everything from blood disorders to blindness. And among the more than 20,000 genes in the human body, p53 stands out. It's so vital to suppressing tumors that it's been called "the guardian of the genome." When it's mutated or deleted, a rare condition called Li-Fraumeni syndrome, it loses its cancer fighting powers. Can Crispr, the gene editing tool whose discovery led to a Nobel Prize, fix this? Researchers have been studying the tool, including in elephants, which make good subjects because they have many copies of the p53 gene and rarely get cancer. But while gene editing is often likened to cutting and pasting in a word processor, fixing flaws in humans is not so easy. In one study, researchers tried to use gene editing to correct the mutation in breast cancer, but could only do so in about 8% of the cells. To have a benefit, you'd need to correct the mutation in every cell of the body, said Moshe Oren, a cancer researcher at the Weizmann Institute of Science in Israel. "At present, Crispr is far less efficient than one would need in order to achieve such a goal," Oren said. With better gene editing technology, "one day we may be able to do it," he added. "But this is still a long way ahead." Even if there's a scientific breakthrough, it could be difficult to bring a potential cure to the market. As I wrote last week, despite the enormous scientific promise of gene therapy, dozens of treatments have been shelved, largely because of financial challenges facing the industry. By the random luck of human genetics, Ingrassia did not carry the p53 mutation. Despite his extensive family history of grief, he remains optimistic, and hopes that Crispr can help with a breakthrough. I asked him what he'd like people to take away from his book. "One, you're not alone," he said. "Two, there is hope. Over the arc of history, there is scientific progress. It might be slow. It might be halting. But if you look at what we know now, versus what we knew 50 or 60 years ago about cancer, it's remarkable." — Gerry Smith | 
No comments:
Post a Comment