Genomics and stem cell research give patient her life back

Sandra Dillon and her fiancé at the CIRM governing board meeting. Thanks to board member Leeza Gibbons for the photo.

Todd Dubnicoff is CIRM’s videographer and video editor

At 28, Sandra Dillon was the picture of healthy living. She ran every day, ate healthy, didn’t smoke and recycled. But she had been bothered by a bump under her rib cage and after numerous tests, her doctors came back with very bad news: she had myelofibrosis, a life-threatening blood disorder that can lead to acute leukemia. No cure existed and no match for a bone marrow transplant was found. The only course of treatment was to try to manage her symptoms as she got sicker. Basically, there wasn’t much hope.

That was eight years ago. Flash forward to last week when Dillon spoke at the CIRM Governing Board’s Spotlight on Disease seminar (watch that video on our website or on our YouTube Channel CIRMTV) to happily report a more hopeful prognosis now that she’s participating in a clinical trial that targets cancer stem cells:

I’ve been on this trial for almost three months and my spleen is getting smaller…This is after eight years…of perpetual pain like I was stuck at the top of a mountain where there wasn’t enough air and I couldn’t acclimate…I felt exhausted constantly and now I have energy.

Dillon’s story provides a glimpse into a future of personalized medicine in which genomics, the study of genes and their function, is applied to pinpoint specific treatments for patients. Catriona Jamieson, Sandra’s physician and director for stem cell research at the UCSD Moores Cancer Center, spoke about the research, funded in part by CIRM, which led to the clinical trial. Using patient samples and leukemia stem cells, Jamieson’s team identified abnormal gene activity responsible for the cancer progression. A specific small molecule known to inhibit this mutant gene activity halted the disease.

Craig Venter, a leading expert in genomics and president of the J. Craig Institute, also spoke at the Spotlight and described personalized medicine this way:

Knowing your genetic code, knowing your genetic variation is part of the future of medicine and part of determining whether you’re going to be treatable by existing drugs.

Application of genomics will be essential for developing stem cell therapies in addition to drug development based on lessons learned from stem cells in the lab. Both Venter and Jamieson point out that merely growing stem cells in the lab introduces changes in their genetic code. These changes can lead to genomic instability, which is associated with cancer. So it will be very important to understand these changes, why they happen, and how to prevent or repair them. Venter stressed this point with a prediction:

I’ll go as far to say that there will be no clinical stem cell application without understanding the genomics and the genetic variation that takes place to ensure we don’t do more harm than good.

The importance of genomics is not lost on the CIRM governing board. Later in the afternoon after the Spotlight, the board approved a $40 million CIRM Genomics Initiative to give California researchers the opportunity to access genomics tools to better understand the stem cells they are working with and to help advance those cells toward therapies for patients. (We blogged about that initiative here.)

Sandra Dillon also appreciates the importance of genomics. Before she began her clinical trial, she was in too much pain and too exhausted to go out with friends at night. Now she plans to stay out all night with her fiancé during their wedding in March.

This page has more information about the work of CIRM grantees developing therapies for leukemia.

T.D.