UNE lab receives international recognition for congenital heart disease research

University of New England researcher Lindsey Fitzsimons, M.S., R.C.E.P., C.E.P. is working to better understand a severe heart abnormality that causes congenital heart defects. She was selected to present her research at the prestigious European Molecular Biology Organization conference on Primary Cilia in Amsterdam, Netherlands, in October 2016.

Fitzsimons, a student at the University of Maine, Graduate School of Biomedical Science and Engineering, is researching her doctoral thesis at UNE in the laboratory of Associate Professor Kerry Tucker, Ph.D., in the Department of Biomedical Sciences at the College of Osteopathic Medicine and the Center for Excellence in the Neurosciences. She will give a talk detailing the research she is conducting on primary cilia, which are physical structures located on the surface of many cell types. These structures help to control the key sensory and signaling patterns essential to developing tissue. Tucker’s lab is researching how damage to these tiny structures directly results in congenital heart defects. As they continue to learn and understand more about this process and other interacting processes involved, the more they can focus their efforts on type and timing of potential medical, surgical and or/genetic interventions for the management, treatment and/or prevention of congenital heart disease. 

Congenital heart disease patients are just one sub-population of ciliopathy patients, or individuals diagnosed with diseases directly related to the damage to or absence of cilia. According to the Ciliopathy Alliance, dysfunctional cilia are known to underlie a number of often chronically disabling and sometimes life-threatening genetic conditions. They affect multiple systems, causing blindness, deafness, chronic respiratory infections, kidney disease, heart disease, infertility, obesity and diabetes.