As cells divide to create new ones, base pairing ensures perfect copies. Bases are the letters that spell out our genetic code — A, T, G, and C, standing for the chemicals adenine, thymine, guanine, and cytosine. Base pairs are the two letters that complement each other: A always matches to T, while G connects to C. If we think of DNA as a curling ladder, each base pair constitutes a rung.
Short for “biological marker,” biomarkers are molecules found in the body that can be used as measures for detecting, tracking, and predicting disease progression. They also can show how patients respond to treatments.
Sharing is Daring
A large body of medical research goes unpublished and unshared, hampering clinical advances. Project Open Data and other initiatives unlock this treasure trove, enabling information to be pooled and creating larger sample sizes to improve development of evidence-based precision medicine.
DNA Analysis, Amplified
Next-generation sequencing has revolutionized DNA analysis, making it exponentially faster and less expensive, while often unveiling valuable information about the genetic makeup of the disease to be treated. In battling cancer, for example, pathologists can scan a tumorous tissue sample for more than 2,800 cancer-related mutations in some 50 cancer genes to elucidate the most powerful treatment options for each patient. Because of its incredible speed and capacity, this technology is also known as high-throughput sequencing.
The prescient Russian writer Leo Tolstoy, in his 1869 epic War and Peace, identified the gap that would be filled by precision medicine. “No disease suffered by a live man [or woman] can be known,” he wrote, “for every living person has his own peculiarities and always has his own peculiar, personal, novel, complicated disease, unknown to medicine.”