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Vicky L. Funanage, Ph.D.
One area of interest concerns children afflicted with neuromuscular disease. Ongoing research conducted in Dr. Funanage's laboratory (Musculoskeletal Inherited Disease Laboratory [MID]) involves several projects designed to provide benefit to these children. The first involves the use of the compound hemin as a possible treatment for muscular dystrophy. Past research has shown that hemin increases the expression of muscle-specific genes and decreases the fibrosis associated with muscular dystrophy. In work conducted in the dystrophic dog model, intravenous administration of hemin showed positive trends in improving muscle strength; however, further work showed that very little of the administered hemin was reaching skeletal muscle. Together with Dr. Tatiana Samoylova of Auburn University, the MID laboratory is working on a novel method that is expected to increase the delivery of hemin to muscle tissue.
The second area of interest involves spinal muscular atrophy, the second most common genetic cause of muscle weakness and wasting in children. This research, done in collaboration with Dr. Mena Scavina, Division of Neurology at Alfred I. duPont Hospital, has revealed increased expression of a protein called RAD (for ras associated with diabetes) in cells of spinal muscular atrophy patients. Overexpression of RAD has been shown to inhibit glucose uptake into tissues, providing a possible explanation for the muscle wasting and weakness seen in this disease. Therapeutics for spinal muscular atrophy are, thus, focusing on ways to decrease expression of RAD, particularly in skeletal muscle.
The MID Laboratory is also studying leptin, an important hormone that regulates energy metabolism and utilization. A collaboration with Sandra Hassink, M.D., Director of the Weight Management Program at Nemours Children's Clinic-Wilmington, has shown that leptin is produced by both the placenta and mammary gland, indicating the importance of leptin in fetal and neonatal growth. In addition, results indicate that leptin augments surfactant production in fetal lung, and a patent application has been filed for the use of leptin in treatment of respiratory distress syndrome in infants, children, and adults.
A relatively new collaboration has begun with Thomas Shaffer, Ph.D., Director of the Nemours Research Lung Center whereby the upregulation of surfactant proteins by various agents in the fetal lamb is being investigated as an alternative treatment in premature infant respiratory distress syndrome.
The MID Laboratory has two collaborative projects with the Nemours Cardiac Center. The first is a project to determine the biochemical basis for development of cyanosis in some patients with congenital heart malformations. The second project is to determine the genetic and biochemical basis of hypoplastic left heart syndrome.
- Functional analysis of Survival Motor Neuron (SMN) protein interactions in spinal muscular atrophy. Mena Scavina, D.O. (Neurology Division, A.I. duPont Hospital); Vicky L. Funanage, Ph.D. (Nemours Biomedical Research, Nemours Foundation); Maninder Chopra, Ph.D. (Department of Research, Nemours Biomedical Research).
- Hemin in the treatment of muscular dystrophy. Vicky L. Funanage, Ph.D. (Nemours Biomedical Research, Nemours Foundation); Judith Childs, R.N., Ph.D. (Department of Research, Nemours Biomedical Research); Mena Scavina, D.O. (Neurology Division, A.I. duPont Hospital).
- Leptin expression in breast milk. Vicky L. Funanage, Ph.D. (Nemours Biomedical Research, Nemours Foundation); Sandra G. Hassink, M.D. (Department of Pediatrics, A.I. duPont Hospital); Joseph DiSanto, M.D. (Brandywine Pediatrics).
- Leptin regulation of lung surfactant production. Vicky L. Funanage, Ph.D. (Nemours Biomedical Research, Nemours Foundation); Sandra G. Hassink, M.D. (Department of Pediatrics, A.I. duPont Hospital); Avinash Chander, Ph.D.
- Iris Gonzalez, Ph.D. - Senior Research Scientist (Ph.D., University of Delaware). Studying the genetics of Barth syndrome and spinal muscular atrophy. Also conducts diagnostics for Barth syndrome, spinal muscular atrophy, and Emery-Dreifuss Muscular dystrophy.
- Angelique Davis-Williams, M.S. - Research Assistant (M.S., University of Medicine and Dentistry). Conducts diagnostic testing of Pelizaeus-Merzbacher disease and Barth syndrome.
- Susan Kirwin, B.S. - Research Associate (B.S., University of Wisconsin). Studying transcription factors in hypoplastic left heart syndrome; the biochemical basis for development of cyanosis in patients with congenital heart malformations; effects of leptin and CC10 on fetal lung development; and muscle specific peptides and targeted delivery of hemin to skeletal and cardiac muscle.
- Priscilla Moses, B.S. - Research Assistant (B.S., Immaculata College). Conducts DNA diagnostics for myotonic dystrophy, Duchenne Becker muscular dystrophy, spinal muscular atrophy, and skin biopsies.
- Darlise O'Connor, B.A. - Senior Research Assistant (B.A., University of Delaware). Studying the abnormal regulation of splicing of DMPK mRNA and of transcripts from neighboring genes, DMAHP and H59, in myotonic dystrophy and also the study of transcription factors in hypoplastic left heart syndrome. Also involved in studying leptin levels in fetal and neonatal growth.
- Gomez-Curet I, Robinson KG, Funanage VL, Crawford TO, Scavina M, Wang W. Robust quantification of the SMN gene copy number by real-time TaqMan PCR. Neurogenetics. 2009;10(2):171–172.
- Wolfson MR, Funanage VL, Kirwin SM, et al. Recombinant human Clara cell secretory protein treatment increases lung mRNA expression of surfactant proteins and vascular endothelial growth factor in a premature lamb model of respiratory distress syndrome. Am J Perinatol. 2008;25(10):637–645.
- Gomez-Curet I, Robinson KG, Funanage VL, Crawford TO, Scavina M, Wang W. Robust quantification of the SMN gene copy number by real-time TaqMan PCR. Neurogenetics. 2007;8(4):271–278.
- Kirwin SM, Vinette KM, Schwartz SB, Funanage VL, Gonzalez IL. Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation. Fertil Steril. 2007;87(4):976.e5–7.
- Arn P, Funanage VL. 3-methylglutaconic aciduria disorders: the clinical spectrum increases. J Pediatr Hematol Oncol. 2006;28(2):62–63.
- Kirwin SM, Bhandari V, Dimatteo D, et al. Leptin enhances lung maturity in the fetal rat. Pediatr Res. 2006;60(2):200–204.
- Wang W, Dimatteo D, Funanage VL, Scavina M. Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin-induced cell death. Mol Genet Metab. 2005;85(1):38–45.
- Alavi K, Schwartz MZ, Prasad R, O'Connor D, Funanage V. Leptin: a new growth factor for the small intestine. J Pediatr Surg. 2002;37(3):327–330.
- Larmore KA, O'Connor D, Sherman TI, Funanage VL, Hassink SG, Klein KO. Leptin and estradiol as related to change in pubertal status and body weight. Med Sci Monit. 2002;8(3):Cr206–10.
- Frisch R, Singleton KR, Moses PA, et al. Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy. Mol Genet Metab. 2001;74(1-2):281–291.
- Hobson G, Stabley D, Funanage V, Marks H. A new polymorphism in the proteolipid protein (PLP1) gene and its use for carrier detection of PLP1 gene duplication in Pelizaeus-Merzbacher disease. Hum Mutat. 2001;17(2):152.
- Resto M, O'Connor D, Leef K, Funanage V, Spear M, Locke R. Leptin levels in preterm human breast milk and infant formula. Pediatrics. 2001;108(1):E15.
- Spear ML, Hassink SG, Leef K, et al. Immaturity or starvation? Longitudinal study of leptin levels in premature infants. Biol Neonate. 2001;80(1):35–40.
- Hobson GM, Davis AP, Stowell NC, et al. Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease. Neurology. 2000;55(8):1089–1096.
- Smith-Kirwin SM, O'Connor DM, De Johnston J, Lancey ED, Hassink SG, Funanage VL. Leptin expression in human mammary epithelial cells and breast milk. J Clin Endocrinol Metab. 1998;83(5):1810–1813.
- Carango P, Funanage VL, Quiros RE, Debruyn CS, Marks HG. Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease. Ann Neurol. 1995;38(4):610–617.
- Krahe R, Ashizawa T, Abbruzzese C, et al. Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing. Genomics. 1995;28(1):1–14.
- Carango P, Noble JE, Marks HG, Funanage VL. Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy. Genomics. 1993;18(2):340–348.
Director of Biomedical Research, Nemours Foundation
Head, Muskuloskeletal Inherited Diseases Laboratory, A.I. duPont Hospital for Children
Phone: (302) 651-6819
Fax: (302) 651-6876
Office: A.I. duPont Hospital for Children
A.I. duPont Hospital for Children
Nemours Biomedical Research
1600 Rockland Road
Wilmington, DE 19803
- B.S., M.S. - Pennsylvania State University
- Ph.D. - University of Delaware
- Postdoctoral - A.I. duPont Hospital for Children