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The overall focus of the Judge lab is on translational cardiovascular genetics. We are currently investigating genetics and pathophysiology of Arrhythmogenic Right Ventricular Dysplasia (ARVD), genetic mechanisms of mitral valve disease, and the genetics of inherited cardiomyopathies.
Ross 1049; 720 Rutland Ave
Baltimore, MD 21205
Dr. Judge's laboratory is primarily involved with research regarding the genetic basis for inherited forms of cardiovascular disease. These include familial forms of cardiomyopathy (ARVD, HCM, Dilated, and Restrictive), and genetic aortic diseases (Marfan syndrome, Loeys-Dietz syndrome).
- Donald W. Reynolds Foundation
- Foundation Leducq
- JHU Ladies In Red
- Dana and Albert "Cubby" Broccoli Center for Aortic Diseases
- Genetic investigation of various forms of cardiomyopathy (ARVD, hypertrophic, dilated, and restrictive);
- Genetic factors contributing to sudden cardiac death;
- Relationship between inherited forms of cardiomyopathy and related forms of muscular dystrophy; and
- The causes and best treatments for the cardiovascular manifestations of Marfan syndrome and related vascular disease
1. Genetics and pathophysiology of ARVD
Arrhythmogenic Right Ventricular Dysplasia (ARVD) is an inherited form of right ventricular cardiomyopathy characterized by fibrofatty scar formation in the heart. It is one of the most common causes of sudden cardiac death, particularly in athletes. It is typically caused by desmosome mutations. The process by which desmosome gene mutations lead to this right ventricular form of cardiomyopathy is not well understood. My laboratory is investigating both known and novel genes for mutations that cause ARVD, correlating it closely with phenotypic data in the large Johns Hopkins ARVD program, and pursuing additional genetic and environmental factors that lead to this and other more common forms of cardiac arrhythmia. We are developing a murine model of ARVD to investigate the pathophysiology of this condition, as well as therapeutic strategies to prevent or improve this condition.
2. Mitral Valve Disease: From Genetic Mechanisms to Improved Repair
Mitral valve disease, including myxomatous thickening, prolapse, and insufficiency, is present in approximately 2% of the US population. Rare cases are associated with specific disorders, such as Marfan syndrome or X-linked MVP, though the genetic factors contributing to the majority of cases remain unknown. As part of an international collaboration, we are investigating mitral valve disease associated with mutations in fibrillin-1, developing valve-specific expression of modulating factors, and investigating the valve phenotype in hypertrophic cardiomyopathy.
3. Additional investigation of inherited cardiomyopathies
Mutations in LMNA, encoding the nuclear envelope isoforms lamin A/C, result in a wide range of phenotypes including isolated dilated cardiomyopathy, muscular dystrophy, and features of premature aging. We have developed an allelic series of cultured dermal fibroblast cell lines from patients with LMNA mutations in order to investigate the causes and possible treatments of laminopathies. In addition, we are pursuing novel treatments for familial transthyretin amyloidosis, a systemic disorder with prominent cardiac features.
- Hal Dietz, MD
- Eduardo Marbán, MD, PhD
- Peter Spooner, PhD
- Hugh Calkins, MD
- Ronald D. Cohn, MD
- Kathryn R. Wagner, MD, PhD
- Gordon Tomaselli, MD
- Robert A. Levine, MD
- Bart Loeys, MD, PhD
- Jeffrey Towbin, MD, PhD
- Nazareno Paolocci, PhD
- Suneel S. Apte, M.B.B.S., D.Phil
- Carolyn Y. Ho, MD
- (and others)
1. Judge DP, Biery NJ, Keene DR, et al. “Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome.” Journal of Clinical Investigation 2004, 114:172-81.
2. Loeys BL, Chen J, Neptune ER, Judge DP, et al, “A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.” Nature Genetics 2005; 37:275-81.
3. Dalal D, ... Calkins H, Judge, DP. “Clinical features of Arrhythmogenic Right Ventricular Cardiomyopathy due to mutations in plakophilin-2.” Circulation 2006; 113:1641-9.
4. Habashi JP*, Judge DP*(co-first author),... and Dietz HC. “Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan Syndrome.” Science 2006; 312:117-21.
5. Awad MM, Dalal D, ..., Judge DP. “DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.” American Journal of Human Genetics, 2006; 79:136-42.
6. Cohn RD, van Erp C, Habashi JP, ..., Judge DP, Ward CW, Dietz HC. “Angiotensin II Type 1 Receptor Blockade Attenuates TGF?-induced Failure of Muscle Regeneration in Multiple Myopathic States.” Nature Medicine, 2007; 13:204-210.