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When Stephen Damiani’s one-year-old son Massimo suddenly lost his ability to crawl and developed other problems in 2009, doctors could not diagnose him and told his parents that he was unlikely to live long. But Stephen, who is not a scientist, had his family’s genomes sequenced and worked with geneticist Ryan Taft at the University of Queensland in Australia to identify a mutated gene.
Taft linked the gene to a class of neurodegenerative disorders involving the myelin sheath, which protects neurons. The discovery allowed Massimo to be treated with therapies for related conditions, and it helped a dozen or so other families worldwide who realized that their children had the same disorder.
Such commendable initiative and diligence is a testament to the power and promise of precision medicine — therapies targeted to individuals. But unlike rare conditions such as Massimo’s, the overwhelming majority of genetic and environmental factors linked to common diseases contribute only slightly to disease risk. Hundreds of genes are probably involved in depression or breast cancer, for instance.
Researchers and ethicists have spent decades struggling...