Group items tagged

Articles on personalized medicine for a socratice discussion

Within a year, Stein's team had designed a clinical trial protocol that turned standard research practices around 180 degrees, launching what it now calls the Signature Clinical Trial Program. Instead of a patient traveling to one of several research sites, Novartis would send the investigational drugs to his or her local oncologist's office. Instead of testing hundreds or thousands of genetically unscreened patients, the company would accept only patients who had the genetic markers the drugs were supposed to target. Instead of waiting months, patients could access the treatments in two or three weeks. Instead of running a large-scale trial to investigate one or two questions, clinicians could conduct smaller, rapid proof-of-concept studies to quickly rule out the tumor types that don't respond to a study agent and identify other tumor types that are potentially treatable with the drug and worthy of further study.

By then, researchers had identified three genetic mutations that can be inherited and, if they are, cause a form of Alzheimer's called early onset because it strikes before age 65 and sometimes far earlier. Since 2004, Hornstein and all five of her siblings have been tested. Hornstein is the only one who doesn't carry PSEN1, one of the mutations.

As the leader of a project called Finding of Rare Disease Genes (FORGE) in Canada, Kym Boycott is one of the top experts in the world in the application of exome sequencing to solve rare disorders. The Canadian project involves a network of doctors and scientists all across the country looking to identify patients with rare childhood conditions and refer them when appropriate for sequencing and analysis.

When Beatrice Rienhoff was born in 2003 following an uneventful, full-term pregnancy, she was breathing well and had good color and muscle tone. She was on the small side, and there were some other subtle clues that something might be amiss. Her fingers and toes, especially on the right side of her body, were bent.