Toward precision medicine in vascular connective tissue disorders
Shira G. Ziegler1,2 | Gretchen MacCarrick 2 | Harry C. Dietz 2,3
1 Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore,Maryland, USA
2 Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
3 Howard Hughes Medical Institute, Chevy Chase, Maryland, USA
Correspondence
Harry C. Dietz, Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Email: hdietz@jhmi.edu
Overview
In this review, the authors outline the history of Marfan syndrome and Loeys-Dietz syndrome (LDS) with a nod to Dr. Victor McKusick, who dedicated his career to these and other genetic connective tissue conditions. The authors discuss a number of obstacles that must be overcome in order to advance research in Marfan syndrome and LDS and recommendations for how to do this, including:
Better understanding laboratory-based technologies, such as induced pluripotent stem cells (adult stem cells “reprogrammed” to mimic embryonic stem cells), mouse models, and gene editing technologies (editing DNA) and how they can be used to learn more about Marfan syndrome and LDS and improve care.
Expanding imaging beyond traditional echocardiograms and CT scans for individuals with Marfan syndrome or LDS to help predict the severity of disease or support diagnosis.
Supporting the development and expansion of large registries of health information and samples, like blood plasma, from individuals affected with Marfan syndrome and LDS to identify patterns related to these conditions and aid in the development of clinical trials and treatment plans.
Increasing collaboration amongst researchers and making it easier for them to collect and share relevant health information related to Marfan syndrome and LDS.
Received: 4 May 2021 | Revised: 20 July 2021 | Accepted: 23 July 2021
DOI: 10.1002/ajmg.a.62461