Researchers at the were awarded $5.6 million of expected funds for a 4-year study from the U.S. Department of Defense to examine why many people with Friedreich鈥檚 Ataxia (FA) go on to also develop heart disease, a major cause of death for those with FA.
Principal investigator for the 新澳门六合彩内幕信息study is professor in the Department of Internal Medicine (Division of Cardiology) and the Department of Molecular Pharmacology and Physiology in the 新澳门六合彩内幕信息Health Morsani College of Medicine. Dr. McDonald is also a researcher in the and director of the 新澳门六合彩内幕信息Health Cardiogenetics Clinic.
鈥淲e still don鈥檛 have a full understanding of the genetic mutation for Friedrich鈥檚 ataxia to determine why so many patients go on to get heart disease 鈥� we need to know,鈥� Dr. McDonald said. 鈥淭he physiology is not well characterized. This study will help us gain a better understanding of the basic mechanisms of the gene that carries FA, and help identify clinical predictors of the FA-associated heart disease.鈥�
The new study dovetails with current work taking place in Dr. McDonald鈥檚 lab, including an R56 grant from the National Institutes of Health, which focuses on the fundamental mechanisms of LMNA-associated heart disease passed from one generation to the next 鈥� and what can be done to help prevent disease and its consequences.
This FA-heart disease study will follow FA patients and their parents over four years, and will involve careful clinical monitoring of heart health, examination of biomarkers, whole genome sequencing, stem cell modeling of heart tissue, and mitochondrial function studies.
Spearheading the work in the DoD study is a multidisciplinary team of 新澳门六合彩内幕信息Health experts representing cardiology, genetics, neurology, molecular pharmacology, cardiac electrophysiology and predictive modeling. The diverse expertise will help distinguish the clinical, genetic, and biological factors that contribute to cardiac disease in FA patients. Data from FA families and basic science models will be integrated with clinical data to identify unique factors in the heart that influence the cardiac phenotype and separate cardiac-specific traits from those influencing the neurological phenotype.
鈥淪tudy results could lead to tools used in patient care settings to identify those FA families most at risk for cardiomyopathy and allow for potential intervention and treatment that could help delay onset of the heart disease,鈥� Dr. McDonald said.
The 新澳门六合彩内幕信息Health interdisciplinary team for the study includes:
- Thomas McDonald, MD: clinical cardiology, molecular pharmacology and cardiogenetics (Division of Cardiology, Department of Internal Medicine, MCOM)
- Aarti Patel, MD: neurocardiogenetics and cardiac imaging (Division of Cardiology, Department of Internal Medicine, MCOM)
- Sami Noujaim, PhD: molecular pharmacology and cardiac electrophysiology (Department of Molecular Pharmacology and Physiology, MCOM)
- Kami Kim, MD: machine learning and clinical predictive modeling (Division of Infectious Diseases, Department of Internal Medicine, MCOM; Center for Global Health Infectious Diseases Research, COPH)
- Theresa Zesiewicz, MD, clinical neurology (Department of Neurology, MCOM)
Dr. Zesiewicz, professor in MCOM and director of the , has specialized in clinical research and patient care for ataxias and other movement disorders鈥� for more than 20 years and is recognized as an international expert and leader in the field of hereditary ataxias. Her movement disorders clinic supports the evaluation of over 3,000 patients per year, likely the busiest in the world.
鈥淒r. Zesiewicz will play a vital role in recruiting research participant and in overseeing neurological assessments of patients as they are longitudinally followed in this study,鈥� Dr. McDonald said.
The funding for the study came from the DoD through its (CDMRP), a section of DoD that funds novel approaches to biomedical research. Link: https://cdmrp.health.mil/
The team will begin recruiting study participants next month.
Photo by Ryan Rossy, 新澳门六合彩内幕信息Health Communications