Connective Issues - Winter 2020

RESEARCH FOR PROGRESS Research has always been at the core of our fight for victory. Benjamin Landis, MD, Indiana University, recipient of a 2019 Early Investigator grant from the Foundation, and Enid Neptune, MD, Johns Hopkins, recipient of a 2019 Faculty Award grant from the Foundation, share the goals for their current research.

Dr Landis’ study is Investigating the Ubiquinone Biosynthesis Gene COQ8B in Thoracic Aortopathy. He explains:

Our work seeks to identify genetic factors that influence the severity of aortic disease. We have found preliminary evidence that COQ8B may be one such gene, so we are seeking to define the functional role of COQ8B in the human aorta. Clinically, we hope this work will ultimately lead to development of new genetic testing strategies that improve our ability to predict an individual patient’s risk for having progressive aortic disease and dissection. We could then optimize clinical management decisions for individual patients accordingly. In addition, understanding the biological processes by which genetic factors influence the severity of aortic disease may help to find new targets for drug therapies to treat aortic disease.

Dr. Neptune’s study is The Role of Oxidative Stress in Marfan Lung Injury. She explains:

Shortness of breath, reduced exercise capacity, impaired lung function, bullous lung disease with pneumothorax (lung collapse), and sleep apnea are all associated with Marfan syndrome and often reflect lung specific manifestations of fibrillin-1 deficiency. A strong focus of my laboratory is a better understanding of the mechanistic basis of these manifestations and the determination of the prevalence and burden of these symptoms and findings. The long-term goals of this work are to increase the awareness of lung impairments in Marfan syndrome and to develop useful strategies and interventions that will promote durable lung health.


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