Studies of human disease often work from the patient backwards - doctors and scientists take the common symptoms of a particular disorder and use them as clues to figure out what first went awry to spur the disease. For neurological diseases like Parkinson’s or amytrophic lateral sclerosis (aka Lou Gehrig’s Disease), symptoms and brain images have pointed the research at particular parts of the brain, which are then studied in animal models and on the genetic or cellular level. But disease research can also work from the other direction, where a particular cellular process is identified as a potential culprit in the disorder before a patient with that defect is even found.

That’s the case with a paper published this month by a team of University of Chicago researchers studying the cellular mechanisms that underlie diabetes. There are many types of diabetes mellitus, but all can be traced back to the hormone insulin - the body’s signal that cells should soak up sugar from the blood. Most cases of juvenile, or Type 1, diabetes result from the immune system erroneously attacking and killing the Beta-cells of the pancreas, which release insulin. Type 2 diabetes, which often develops in adulthood, results from a reduced sensitivity to insulin and/or a decreased release of the hormone.

But diabetes can also have a genetic origin, in some rare cases, when one of the genes involved in the secretion of insulin is disrupted. Previously on the blog, we’ve talked about the story of Lilly Jaffe, whose diabetes was found to be caused by a rare genetic mutation in a protein called a potassium channel, critical for the release of insulin. The mutated potassium channel seen in Lilly’s case interferes with the trigger of insulin release, causing lower amounts of the hormone to circulate through her blood. Thus, Lilly was treated by daily injections of insulin, until doctors at the University of Chicago detected the mutation and prescribed her a drug that directly targeted the potassium channel.

Now researchers at the University of Chicago have found another ion channel that must function properly for the right amount of insulin to be released. Only problem: there’s no patient.

read more

As you’ve no doubt heard by now, actor Patrick Swayze died yesterday at age 57 after a battle with pancreatic cancer. In March, blog founder Jeremy Manier interviewed University of Chicago Medical Center physician Dr. Irving Waxman about pancreatic cancer, one of the deadliest and hardest to treat cancers. The challenge, as Waxman explains, is twofold - the symptoms of pancreatic cancer typically do not present until the disease is in advanced stages, and the organ’s location deep behind the abdomen makes makes surgical treatment more difficult. The statistics are sobering: even with treatment, only about 5% of those diagnosed with pancreatic cancer survive 5 years.

But doctors are hopeful that the momentum could be shifting in the battle against pancreatic cancer. “Smart chemotherapy” with less severe side effects, new imaging techniques to detect pancreatic cancer in its early stages, and new drug treatments - a study released just yesterday found that an already-existing diabetes medication may be effective in combination with chemotherapy for selectively killing tumor cells.

Here again is the interview with Dr. Waxman where he discusses the clinical challenges of pancreatic cancer and some of the promising frontiers of research to reduce those challenges.

There’s a fine pancreatic cancer piece in the Chicago Tribune today by Robert Mitchum, a friend of the blog who recently got his Ph.D. in neurobiology at the University of Chicago. Rob uses a new study on a potential method of detecting pancreatic cancer to talk about the urgent need for such early screening methods. Pancreatic cancer typically causes few symptoms until a relatively late stage, when the tumor has spread and treatment options are limited. The statistics are stark - each year, more than 37,000 people get pancreatic cancer and 34,000 die from it.

Despite the grim numbers, some people do survive, and new efforts at early detection could boost their chances further. What I find amazing is how patients - and doctors - find the hope to continue their fight in the face of such daunting odds. How do you muster the energy for a struggle you know you’re unlikely to win, though future progress may depend on lessons learned from your failure? Many diseases that are now treatable once seemed hopeless. Most of those successes are built on knowledge gained from countless tragedies.

We hope to write a lot about pancreatic cancer in this blog. I’ll return later this week to the subject of finding hope in a seemingly hopeless field.