Determining the molecular root cause for trisomy syndromes – chromosomal disorders that include Down syndrome and Turner syndrome – is at the heart of a research project being conducted by Jason Stumpff, Ph.D., University of Vermont assistant professor of molecular physiology and biophysics, who recently earned a two-year, $150,000 March of Dimes Basil O’Connor Starter Scholar Research Award to support this work.

The cause of birth defects ranging from intellectual disabilities to physical disabilities to a shortened lifespan, trisomy syndromes occur when an extra copy of a chromosome is produced in the cells of a developing fetus. Cells containing an abnormal number of the chromosomes that hold the cell’s genetic material are referred to as aneuploid, explains Stumpff, whose previous research has focused on cancer. Coincidentally, some cancer cells also have abnormal numbers of chromosomes.

“This condition affects an estimated five to 25 percent of human pregnancies, and in most cases, aneuploid pregnancies are not viable,” Stumpff says.

Stumpff is examining the chromosome segregation process to try and pinpoint where the error that results in trisomy disorders takes place. His and his research colleagues’ hypothesis is that
specialized force-producing proteins function to bias chromosome geometry and promote equal chromosome distribution during cell division.

“Our work will directly test this idea and determine how defects in the mechanical regulation of chromosomes contribute to aneuploidy,” says Stumpff.

Created in 1973, the Basil O'Connor Starter Scholarship Research Awards – named for the first March of Dimes chairman and president – have assisted promising young scientists at the beginnings of their careers in birth defects research. The March of Dimes’ Prematurity Research Initiative has focused especially on genetics and gene-environment interactions relating to the causes of prematurity. The Foundation's investment in research has, since 1954, led to 13 scientists winning the Nobel Prize whose original work was supported by March of Dimes research grants.

The March of Dimes is the leading nonprofit organization for pregnancy and baby health and has a mission to improve the health of babies by preventing birth defects, premature birth, and infant mortality.

A graduate of Eckerd College in St. Petersburg, Fla., Stumpff received his Ph.D. from the University of Colorado and completed a postdoctoral fellowship at the University of Washington. He joined the UVM faculty in 2011.