HemAware is conducting a series of interviews with researchers who have received awards from the National Hemophilia Foundation (NHF) to pursue their research interests. This interview was conducted with David A. Buchner, PhD, an assistant research scientist at the University of Michigan, Ann Arbor.
What drew you to this field? What was your initial interest in this field of research?
Buchner’s background in genetics prompted his interest in determining the reason for the variations in phenotypes, the physical traits and characteristics of a disorder, in people with hemophilia. “I was interested in trying to identify and understand the genetic modifiers that can affect the severity of hemophilia,” he says. He describes hemophilia as one of the best-characterized genetic disorders, yet admits there remains much to learn. “The idea of starting with something that’s so well understood and so clinically relevant drew me to the field.”
Where were you in your career when you received the Judith Graham Pool Postdoctoral Research Fellowship?
Buchner received the award in 2005 for the project “Identification of Chemical Modifiers of Coagulation.” “I was starting my postdoctoral fellowship at the University of Michigan in Dr. David Ginsburg’s lab,” he says. Ginsburg is a world-renowned geneticist who cloned the gene for von Willebrand factor and has studied how von Willebrand disease affects families.
How did you use the grant?
The grant money allowed Buchner to pursue a new direction in his lab—using zebrafish to study bleeding disorders. The fish undergo embryonic development similar to that of humans, with similar genes that perform similar functions. They can be ideal for generating mutations and identifying the genes responsible for them. “They are a powerful genetic model system. You can do high-throughput mutagenesis (mutation) screens in order to find genetic factors that are affecting disease. You can also perform high-throughput drug screens to identify compounds that are able to treat the disease.”
Did the research NHF funded through the JGP assist in advancing your own position at your research institution/hospital? Or did it serve as a building block to further your career or research in hemophilia?
“The JGP grant was instrumental in giving me the opportunity to try a new research project that may not have been funded with conventional mechanisms,” Buchner says.
Are you still engaged in coagulation or bleeding disorders research specifically?
Buchner has changed research directions and is now studying obesity and diabetes.
How does/will your research have an impact on the clinical aspects of patient care?
“If we can understand why there is so much variability in patient phenotype, we can use that information to either predict the severity of hemophilia or identify new factors that may serve as therapeutic targets to modify the severity of bleeding disorders,” says Buchner.
Although no longer pursuing bleeding disorders research, Buchner says colleagues quickly picked up where he left off. “Multiple labs are currently using the zebrafish model system that we started working on, trying to identify drugs that can affect bleeding time and coagulation disorders.”
What career goals do you have?
“Although I’ve changed my focus to obesity, the idea is the same—I’m still working toward trying to identify genetic modifiers of complex disease,” Buchner says. The knowledge and experience he gained while conducting screens for hemophilia are applicable to the disorders he is now researching.
Where do you see bleeding disorders research going?
Buchner feels the fields of genetics and gene therapy are both poised for significant advances during the next decade. He acknowledges that while gene therapy research has had its share of highs and lows, it will be a key player in future treatment options. “Given the clinical importance of hemophilia, how much is known about the inheritance pattern and the fact that it’s a single-gene disorder, hemophilia will be a good target for gene therapy in the future.”
In addition, as it becomes affordable to obtain an individual’s entire genome sequence, Buchner says more information will be available to researchers. “We may soon answer many of the mysteries surrounding the genetic causes of clinical variability in hemophilia and other bleeding disorders.”
When you’re not working, how do you “escape” from your work?
Buchner devotes his free time to his family—his wife and two daughters, ages 1 and 5. “Playing with my two girls is certainly my favorite escape from work,” he says. To stay fit, he plays soccer and rides his bike.