Rare and ultra-rare disease research has produced real scientific breakthroughs over the past decade: antisense oligonucleotides, gene therapies, and gene editi...
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In genetic medicine, we increasingly know what to deliver. The unsolved problem is getting it to the right place in the body. That was the central thesis in the...
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Most people with inflammatory bowel disease do not carry one broken gene. They carry risk spread across many genes and regulatory regions at once, which is why ...
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Most people accumulate cancer-associated blood mutations as they age, and quietly, without ever developing cancer. A growing body of evidence now links those mu...
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For decades, the dominant framework for understanding neurodegenerative disease has centered on inherited risk genes. A growing body of single-cell genomics res...
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The C9orf72 hexanucleotide repeat expansion is the most common genetic cause of both ALS and frontotemporal dementia (FTD). Carriers face roughly a 50% chance o...
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When Trace Neuroscience announced on June 22 that first patients had been dosed in the LAUNCH ALS trial, it felt like the right moment to revisit our original p...
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Most genetic medicine is built for populations large enough to support a clinical trial. N-of-1 medicine is built for the opposite case: a single patient whose ...
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Bipolar disorder has long been recognized as highly heritable, yet the biology underlying the condition has remained difficult to resolve. The genetics are comp...
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More than three decades after the Huntington's disease gene was cloned in 1993, there is still no approved therapy that alters the course of the disease. Recent...
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