When Tom Bartnikas was in high school, his grandfather died of amyotrophic lateral sclerosis, also known as ALS or Lou Gehrig's disease. He watched his grandfather gradually lose the ability to move his limbs, to speak, and, eventually, to breathe.
That experience motivated Bartnikas to specialize in the role of metals in human health and disease while earning his M.D./ Ph.D. in molecular cell biology at Washington University in St. Louis. At the time, his future mentor, Dr. Jonathan Gitlin, was investigating whether copper in the body caused ALS.
When studying the causes of a disease, “It really makes a difference knowing someone firsthand who suffered from it,” Bartnikas says. “Laboratory research requires you to pay attention to minute details, to be precise and accurate, but if I had not seen my grandfather become unable to chew and to dress himself, my Ph.D. work would have seemed very abstract and far removed from the reality of the illness.”
Scientists eventually concluded that copper toxicity probably does not cause ALS, but Bartnikas has continued to study the biological mechanisms that regulate metals in the body, now researching how we process iron.
While copper, iron, and other metals are essential nutrients, too much of them in the system — as a result of either environmental exposure or a genetic inability to metabolize them properly — can cause illness.
Bartnikas shifted his focus to the role of iron when he began his postdoctoral work with Drs. Nancy Andrews and Mark Fleming at Boston Children's Hospital, where his research was funded in part by a grant from the National Institutes of Health (NIH). “The way the body absorbs iron is similar to the way it metabolizes copper and other metals,” he says.
Iron deficiency causes anemia and other issues, but iron overload, a fairly common condition called hemochromatosis, is toxic and may cause liver cancer, problems with the heart and pancreas, and diabetes, Bartnikas says.
Scientists have only recently begun to understand how the body regulates iron, discovering various genetic causes for hemochromatosis. Among these are genetic mutations that prevent the liver from manufacturing enough hepcidin, a hormone that helps regulate iron absorption. “If your body does not make enough hepcidin, iron accumulates to toxic levels,” Bartnikas says. Scientists did not know hepcidin existed until 2000.
The only treatment for iron overload, used since the 1950s, is phlebotomy, which entails removing the patient's blood — a technique that “works but seems a bit barbaric,” Bartnikas says. Scientists are now trying to develop chemical compounds that mimic hepcidin and could potentially be used to help restore iron to normal levels in patients who cannot produce the hormone.
“Some studies in this field are very abstract, but I like studying things relevant to human health, that have potential medical applications, even though I did not continue with my medical training,” Bartnikas says.
“It may not always be realistic to set out to cure a disease. A more realistic goal may be to come up with therapies that alleviate suffering as much as possible, that take an acute disease and make it more manageable, as with HIV and AIDS. There is still no vaccine, but drugs are quite effective at suppressing infection. If you can develop drugs that don’t cure but do suppress disease, you have accomplished at lot.”
Originally from the Montreal area, Bartnikas was excited to join Brown’s Department of Pathology and Laboratory Medicine because his “research interests fit in well with the work others are doing, but there's also a potential to expand into new areas.” While Bartnikas has been studying genetic and nutritional causes for metal overload, researchers at Brown are looking at the effects of environmental exposure to toxic metals.
Bartnikas especially appreciates how supportive Brown is of its young faculty. He looks forward to mentoring postdocs, graduate students, and undergrads because “a focus on the younger generation adds vitality,” he says. “I like to be challenged, and teaching makes you think about how you understand things. It is one thing to understand something and another to communicate it to others.”
What does Bartnikas do to relax, besides spending time with his wife, Lisa, a pediatrician at Children's Hospital in Boston? “I'm teaching myself electric guitar. I like hard rock — heavy metal. You could make some bad jokes about that.”