Morse Research

Jane H. Morse, M.D.
Professor Emerita of Clinical Medicine and Special Lecturer
Black Building 801
Office (212) 305-5919
Laboratory (212) 305-3791
jhm4@columbia.edu

Research Interests

The main goal has been the identification of genes that cause pulmonary arterial hypertension (PAH) and how these genes contribute to the pathophysiology of the disease and its clinical subsets. These studies have focussed on patients with sporadic and familial primary pulmonary hypertension, PAH with connective tissue diseases, HIV-infection and congenital systemic to pulmonary shunts, although all types of PAH are included.

Research Activities

Our group here at Columbia and another at Vanderbilt found that familial form of primary pulmonary hypertension (FPPH), inherited as an autosomal dominant disease with incomplete penetrance, was linked to chromosome 2q32,33. These same two groups found that mutations of bone morphogenetic protein receptor 2 (BMPR2) at 2q33 caused FPPH. BMPR2 mutations were also found 9% of fenfluramine appetite-associated PAH whereas no mutations were found in PAH patients with HIV-infection or with scleroderma spectrum of disease. Our clinical resources include 100 FPPH families and 5 hereditary hemorrhagic telangiectasia (HHT1) type 1 families, four have mutations in activin-like receptor 1 (ALK-1), another gene associated with PPH. The identification of BMPR2 gene, a member of the TGF-B superfamly has focused the BMP/TGF-B signaling pathway for new explorations into the pathogenesis of PPH, which is now an active area of investigation.

Selected Publications

Deng Z, Morse JH, Slager SL, Cuervo N, Moore KJ, Venetos G, Kalachikov S, Cayanis E, Fischer SG, Barst RJ, Hodge SE, Knowles JA. Familial Primary Pulmonary Hypertension (Gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. Am J Hum Genet 2000; 67:737-744.

Humbert M, Deng Z, Simonneau G, Barst J, Sitbon O, Wolf M, Cuervo N, Moore KJ,Hodge SE, Knowles JA, Morse JH. BMPR2 mutations in pulmonary hypertension associated with fenfluramine derivatives. Eur Resp J 2002;20:518-523.

Morse J, Barst R, Horn E, Cuervo N, Deng Z, Knowles J. Pulmonary Hypertension in scleroderma spectrum of disease: Lack of bone morphogenetic protein receptor 2 mutations. J Rheumatol 2002;11:2379-81.

	Jane H. Morse, M.D. Professor Emerita of Clinical Medicine and Special Lecturer Black Building 801 Office (212) 305-5919 Laboratory (212) 305-3791 jhm4@columbia.edu
	Research Interests The main goal has been the identification of genes that cause pulmonary arterial hypertension (PAH) and how these genes contribute to the pathophysiology of the disease and its clinical subsets. These studies have focussed on patients with sporadic and familial primary pulmonary hypertension, PAH with connective tissue diseases, HIV-infection and congenital systemic to pulmonary shunts, although all types of PAH are included.
	Research Activities Our group here at Columbia and another at Vanderbilt found that familial form of primary pulmonary hypertension (FPPH), inherited as an autosomal dominant disease with incomplete penetrance, was linked to chromosome 2q32,33. These same two groups found that mutations of bone morphogenetic protein receptor 2 (BMPR2) at 2q33 caused FPPH. BMPR2 mutations were also found 9% of fenfluramine appetite-associated PAH whereas no mutations were found in PAH patients with HIV-infection or with scleroderma spectrum of disease. Our clinical resources include 100 FPPH families and 5 hereditary hemorrhagic telangiectasia (HHT1) type 1 families, four have mutations in activin-like receptor 1 (ALK-1), another gene associated with PPH. The identification of BMPR2 gene, a member of the TGF-B superfamly has focused the BMP/TGF-B signaling pathway for new explorations into the pathogenesis of PPH, which is now an active area of investigation.
	Selected Publications Deng Z, Morse JH, Slager SL, Cuervo N, Moore KJ, Venetos G, Kalachikov S, Cayanis E, Fischer SG, Barst RJ, Hodge SE, Knowles JA. Familial Primary Pulmonary Hypertension (Gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. Am J Hum Genet 2000; 67:737-744. Humbert M, Deng Z, Simonneau G, Barst J, Sitbon O, Wolf M, Cuervo N, Moore KJ,Hodge SE, Knowles JA, Morse JH. BMPR2 mutations in pulmonary hypertension associated with fenfluramine derivatives. Eur Resp J 2002;20:518-523. Morse J, Barst R, Horn E, Cuervo N, Deng Z, Knowles J. Pulmonary Hypertension in scleroderma spectrum of disease: Lack of bone morphogenetic protein receptor 2 mutations. J Rheumatol 2002;11:2379-81.