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Toward precision medicine in vascular connective tissue disorders
Shira G Ziegler1,2, Gretchen MacCarrick2, Harry C Dietz2,3
1Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
American Journal of Medical Genetics. Part A
|August 24, 2021
Summary
Advances in understanding inherited vascular connective tissue disorders like Marfan syndrome and Loeys-Dietz syndrome offer improved patient care. However, challenges remain in realizing precision medicine for these genetic conditions.
Area of Science:
- Genetics
- Vascular Biology
- Connective Tissue Diseases
Background:
- Inherited vascular connective tissue disorders (IVCTDs) have seen significant research advancements.
- Understanding disease etiology and pathogenesis has improved patient counseling and care.
- Victor McKusick's pioneering work laid foundational knowledge in this field.
Purpose of the Study:
- To review progress in IVCTDs, focusing on Marfan syndrome and Loeys-Dietz syndrome.
- To identify obstacles hindering the implementation of precision medicine in IVCTDs.
- To highlight the historical contributions to the field.
Main Methods:
- Literature review of recent advancements in IVCTD research.
- Analysis of challenges in applying precision medicine strategies.
- Discussion of key syndromes and historical context.
Main Results:
- Significant progress in understanding the genetic basis and pathology of IVCTDs.
- Identification of persistent barriers to achieving precision medicine.
- Contextualization of current knowledge within historical research.
Conclusions:
- While progress is substantial, challenges in precision medicine for IVCTDs persist.
- Further research and strategic implementation are needed to fully leverage genetic insights.
- Continued focus on specific syndromes like Marfan and Loeys-Dietz is crucial for advancing care.
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