| 236 | Vicky L. Funanage, Ph.D. | <p>Principal Investigator</p>
<p>Operational Vice President, Research - Nemours Children’s Health System</p>
<p>Director, Molecular Diagnostic Lab, Nemours/Alfred I duPont Hospital for Children</p>
<p>Chief, Musculoskeletal Inherited Disease Research Program, Department of Medical Research, Nemours/Alfred I. duPont Hospital for Children</p>
<p>Associate Professor of Pediatrics, Jefferson Medical College, Thomas Jefferson University</p>
<p>Adjunct Professor, College of Health Sciences, University of Delaware</p>
<p>Internal Advisory Committee – CPR</p>
<p>Chair IAC, Delaware Clinical and Translational Accel Program </p> | (302) 651-6819 | (302) 651-6876 | vfunanag@nemours.org | A.I. duPont Hospital for Children | | 1600 Rockland Road ARB room 200 Nemours Biomedical Research Nemours/Alfred I. duPont Hospital for Children Wilmington, DE 19803 | <ul>
<li><strong>B.S., M.S.</strong> - Pennsylvania State University
<li><strong>Ph.D.</strong> - University of Delaware
<li><strong>Postdoctoral</strong> - A.I. duPont Hospital for Children </li></ul> | | | | | | <h2>Bio</h2>
<p>Dr. Funanage is a molecular geneticist who joined Nemours in July 1981. She holds faculty positions at Jefferson Medical College/Thomas Jefferson University and the University of Delaware. Dr. Funanage was appointed to the position of Operational Vice President, Research - Nemours Children’s Health System in August 2014, and she also serves as the Director of the CLIA-certified Molecular Diagnostic Laboratory and Head of the Musculoskeletal Inherited Disease Laboratory at Nemours/AIDHC. Her recent committee service includes the Research and Development Task Force for the Delaware Health Science Alliance (DHSA), the DHSA Coordinating Council, the DE-INBRE Steering Committee, the UD College of Health Sciences Advisory Committee, the Chair of the Internal Advisory Committee for the Delaware Clinical and Translational Research Program, and the Delaware Valley Institute for Clinical and Translational Sciences Executive Committee. Dr. Funanage has received external funding for her research work in understanding the genomic basis of pediatric musculoskeletal and neuromuscular disorders, and her publications include research on several neuromuscular diseases including myotonic dystrophy, Pelizaeus-Merzbacher disease, fibrous dysplasia, and spinal muscular atrophy. Dr. Funanage received her M.S. in Genetics from the Pennsylvania State University in 1977, and her Ph.D in Biological Sciences from the University of Delaware in 1981. Her undergraduate degree is from The Pennsylvania State University (1975). She has received numerous honors, including the Distinguished Alumnus Award in Biological Sciences from the University of Delaware and the Bleyer Family Humanitarian Award from the Huntington’s Disease Society. Dr. Funanage also holds six U.S. patents and one international patent for her research work.</p>
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<h2>Personal Statement</h2>
<p>I have worked at Nemours/AIDHC for 34 years and served as the Director of Biomedical Research for 15 years and was recently appointed to the position of Operational Vice President for Research. As OVP, Research for Nemours Children’s Health System, I oversee all operating functions for the Delaware and Florida research programs (total annual budget of over $32 million) and am responsible for spearheading research partnerships and collaborative initiatives with the scientific, medical and educational communities. I also have substantial expertise in basic, clinical, and translational research, with long-standing collaborative relationships with Pediatric Orthopedics, Clinical Genetics, Cardiology, and Neurology. My research interest is in the genomic basis of pediatric musculoskeletal and neuromuscular disorders, and I have published collaboratively on several neuromuscular diseases including myotonic dystrophy, Pelizaeus-Merzbacher disease, fibrous dysplasia, and spinal muscular atrophy. I am also the Director of the CLIA-certified Molecular Diagnostic Laboratory and Head of the Musculoskeletal Inherited Disease Laboratory at Nemours/AIDHC. I have extensive leadership experience throughout the Delaware Valley including service on the Research and Development Task Force for the Delaware Health Science Alliance (DHSA), the DHSA Coordinating Council, the DE-INBRE steering committee, the UD College of Health Sciences Advisory Committee, the Delaware Valley Institute for Clinical and Translational Sciences Executive Committee, the Internal Advisory Committee for the COBRE Center for Pediatric Research, and Chair of the Internal Advisory Committee for the Delaware Clinical and Translational Research Program.</p>
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<div>
<h2>Current Research Support</h2>
<p>NIH/INBRE 2P20RR016472-09 (PI: Steiner) - 9/30/01-2/28/2014 (Project Period)<br><em>Delaware INBRE</em> - 3/1/12-2/28/2013 (Budget Period)<br>The goal of the Delaware INBRE renewal proposal is to take another major step towards improving health care in the State by extending the work of the current INBRE in building a statewide biomedical research capacity.<br>Role: Principal Investigator for Nemours (10% effort)</p>
<p>Sponsor: Nemours (PI: Schanen) - 9/1/10-12/31/13<br><em>Clinical Genetics Cluster</em><br>Project 6: Effect of TRPV4 mutation on calcium channel function: toward new therapies<br>The specific aims of the project are: 1) establish genotype and phenotype data in a cohort of patients affected with metatropic dysplasia; 2) determine the effect of TRPV4 mutations on intracellular Ca+2 levels in cells<br>Role: Principal Investigator (10% effort)<br>Prior Research Support:<br>NIH Center for Pediatric Research P20 RR020173 (PI: Shaffer) - 9/7/04-7/31/10<br><em>Mechanisms of cell death in spinal muscular atrophy</em><br>The major goals of this study are to determine whether the SMN protein is directly involved in cell survival and if loss of SMN’s survival function results in motor neuron death in SMA. <br>Role: Co-investigator (10% effort)</p>
<div>
<h2>Musculoskeletal Inherited Disease Laboratory</h2>
<p><strong>Laboratory Staff:</strong></p>
<ul>
<li><strong>Iris L. Gonzalez, PhD.</strong> Senior Research Scientist (Ph.D., University of Delaware). Conducts diagnostics for the Molecular Diagnostics Lab located within the MID lab.
<li><strong>Susan M. Kirwin</strong>, Assistant Director, Molecular Diagnostics Lab/Senior Research Associate (B.S., University of Wisconsin). Studying transcription factors in hypoplastic left heart syndrome; the effect of TRPV4 mutations in metatropic dysplasia; diabetic and cardiovascular risk factors in breast fed and formula fed infants.
<li><strong>Priscilla Moses</strong>, (M.S., Immaculata) Conducts DNA diagnostics for the Molecular Diagnostics Lab
<li><strong>Danielle Stubbolo</strong>, (B.S., University of Delaware) Conducts DNA diagnostics for the Molecular Diagnostics Lab
<li><strong>Kathy Vinette</strong>, (M.S., Ohio State) Conducts DNA diagnostics for the Molecular Diagnostics Lab
<li><strong>Tanya Tischler</strong>, (M.S., East Stroudsburg University) Conducts DNA diagnostics for the Molecular Diagnostics Lab </li></ul>
<h2>Current projects</h2>
<ol>
<li>
<div><strong>“Effect of TRPV4 Mutation on Calcium Channel Function: Toward New Therapies”</strong></div>
<div>Pathogenic TRPV4 mutations have been identified in a number of musculoskeletal conditions, including dominant brachyolmia, Kozlowski type spondylometaphyseal dysplasia, metatropic dysplasia, Maroteaux type spondylo-epiphyseal dysplasia, and parastremmatic dysplasia, as well as in several neurological disorders, including hereditary motor and sensory neuropathy type IIC, congenital spinal muscular atrophy, Charcot-Marie-Tooth 2A, and scapuloperoneal spinal muscular atrophy. This project involves the study of channel activity in cultured cells (fibroblasts, bone, and cartilage) isolated from metatropic dysplasia patients with TRPV4 mutations. Our current work conducted both at Nemours and in collaboration with Dr. Randall Duncan of the University of Delaware, has demonstrated that increased intracellular calcium levels are correlated with TRPV4 gain-of-function mutations. This IRB approved study is currently enrolling patients to aid in our understanding of how this altered channel activity leads to the severe pathology of metatropic dysplasia. <br> </div>
<div>Current Research Group:
<p>Vicky L. Funanage, PhD. – Principal Investigator<br>Michael Bober, M.D., PhD. – Co-director, Skeletal Dysplasia Program, Division of Medical Genetics<br>William Mackenzie, M.D.- Chair, Department of Orthopedics, Alfred I. duPont Hospital for Children<br>Susan M. Kirwin, B.S. – Senior Research Associate/MID Laboratory Manager<br>Randall Duncan, PhD- Chair, Department of Biological Sciences, University of Delaware<br>Lauren Hurd, B.S. – University of Delaware graduate student</p></div>
<div> </div>
<li>
<div><strong>“Functional Analysis of TBX5/NKX2.5 Mutations in Hypoplastic Left Heart Syndrome”</strong><br> </div>
<div>The second area of interest involves hypoplastic left heart syndrome (HLHS). Congenital heart malformations are the most common birth defect, and are the leading cause of infant mortality within the first year of life. HLHS is characterized by the underdevelopment of several structures on the left side of the heart: the left ventricle is underdeveloped; the mitral valve and aortic valve are small or may not be developed; the ascending portion of the aorta is small, with possible aortic stenosis, atresia of the aortic arch, and/or patent ductus arteriosis. Our research, done in collaboration with Dr. Christian Pizarro, has focuses on determining the genetic cause(s) of this rare disease. We have screened DNA samples from patients with congenital heart defects, and have found a cluster of variations within exon 8 of the TBX5 gene. This domain of the protein interacts with transcription factors that can regulate cardiac development, and suggests a potential mechanism by which alterations in specific cardiac transcription factors may lead to HLHS. Future studies include gene sequencing of the cardiac transcription factors NKX2.5, GATA4, and other potential candidate genes, as well as functional studies. <br> </div>
<div>Current Research Group:
<p>Vicky L. Funanage, Ph.D. – Principal Investigator<br>Christian Pizarro, M.D. – Director, Nemours Cardiac Cente<br>Susan M. Kirwin, B.S. – Senior Research Associate/MID Laboratory Manager</p></div>
<div> </div>
<li>
<div><strong>“Diabetic and Cardiovascular Risk Factors in Breast-fed and Formula-fed Children”</strong><br> </div>
<div>Previous epidemiological studies have shown that breastfeeding reduces the incidence of obesity in childhood, and that this effect is dose-related- that is, the duration of breastfeeding directly relates to a decreased risk of developing obesity in childhood. In a previously Nemours-funded study, we followed 82 mother/infant pairs (enrolled as exclusive breast-fed or formula-fed families) from a local pediatric practice. Breast milk leptin levels were measured over the first 12 weeks of lactation and correlated to infant growth, adiposity, and satiety. We found that leptin levels in breast milk influenced satiety, especially in male infants. This cohort provided us a unique opportunity to perform a follow-up study almost a decade later to measure various aspects of adiposity (BMI and arm fat) as well as biomarkers of diabetes and cardiovascular disease in serum of these children. If breastfeeding reduces these risk factors, it will offer a cost-effective means by which to reduce the incidence of obesity and its associated co-morbidities in children. We are interested in determining whether breast feeding is a protective factor in the development of obesity, diabetes and/or cardiovascular disease.<br> </div>
<div>Current Research Group
<p>Vicky L. Funanage, Ph.D. – Principal Investigator<br>Susan M. Kirwin, B.S. – Senior Research Associate/MID Laboratory Manager<br>Sandra Hassink, M.D. – Emeritus faculty, Alfred I. duPont Hospital for Children</p></div></li></ol>
<h2>Positions and Employment</h2>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">1976 - 1977</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">Graduate Research Assistant, The Pennsylvania State University, University Park, PA</span></div></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">1977 - 1979</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">Graduate Teaching Assistant, University of Delaware, Newark, DE</span></div></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">1979 - 1981</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">Graduate Research Assistant, University of Delaware, Newark, DE</span></div></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">1981 - 1985</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">Jr. Research Associate, Alfred I. duPont Hospital for Children, Wilmington, DE</span></div></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">1986 - 1995</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">Research Scientist, Alfred I. duPont Hospital for Children, Wilmington, DE</span></div></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">1987 - present</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">Chief, Musculoskeletal Inherited Disease Research Program, Department of Medical Research, Alfred I. duPont Hospital for Children, Wilmington, DE</span></div></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">1990 - 2004</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">Assistant Professor of Pediatrics, Thomas Jefferson University, Philadelphia, PA</span></div></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">1990 - present</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">Director, Molecular Diagnostic Lab, Alfred I. duPont Hospital for Children, Wilmington, DE</span></div></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">1996 - 1998</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">Senior Research Scientist, Alfred I. duPont Hospital for Children, Wilmington, DE</span></div></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">1998 - 2000</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">Director of Medical Research, Alfred I. duPont Hospital for Children, Wilmington, DE</span></div></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">2000 - 2014</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">Director of Biomedical Research of The Nemours Foundation, The Nemours Foundation, Jacksonville, FL</span></div></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">2014 - present</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">Operational Vice President, Research - Nemours Children’s Health System</span></div></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">2004 - present</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">Associate Professor of Pediatrics, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA</span></div></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">2012 - present</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">Adjunct Professor, College of Health Sciences, University of Delaware</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"> </div></div>
<p><strong>Other Experience and Professional Memberships:</strong></p></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">1988 - present</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">American Society for Cell Biology</span></div></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">1986 - present</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">American Society of Human Genetics</span></div></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">1993 - present</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">American Association for the Advancement of Science</span></div></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">2000 - present</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">Alliance of Independent Academic Medical Centers</span></div></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">2004 - present</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">Internal advisory board, COBRE Center for Pediatric Research</span></div></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">2005 - present</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">Steering Committee, Delaware INBRE NIH grant</span></div></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">2008 - present</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">University of Delaware College of Health Sciences Visiting Committee</span></div></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">2009 - 2012</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">Research and Development Task Force, Delaware Health Sciences Alliance</span></div></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">2009 - present</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">Delaware Valley Rehabilitation Network Coordinating Council</span></div></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">2011 - present</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">Coordinating Council, Delaware Health Sciences Alliance</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"> </div></div></div></div>
<p><strong>Professional Affiliations and Activities:</strong></p>
<div><span style="FONT-SIZE:14px;">Steering Committee for the 50th Anniversary of the Admission of Women to Jefferson Medical College</span></div>
<div><span style="FONT-SIZE:14px;">Member, Greater Philadelphia Life Sciences Congress</span></div>
<div><span style="FONT-SIZE:14px;">Phi Sigma Biological Honor Society</span></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">1979 - 1981</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">UNIDEL Cell Control Fellowship, University of Delaware</span></div></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">1987</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">Invited participant, High School Program, Annual Meeting of the American Society for Cell Biology, St. Louis, MO</span></div></div>
<div><span style="FONT-SIZE:14px;">Myotonic Dystrophy Working Group, Muscular Dystrophy Association</span></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">1997</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">U.S. Patent No. 5,604,199 “A Method for Treating Muscle Fibrosis”, Issued February 18, 1997</span></div></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">1999</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">U.S. Patent No. 5,882,868 “Method for Diagnosing Spinal Muscular Atrophy”, Issued March 16, 1999</span></div></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">2002</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">U.S. Patent No. 6,475,984 “Administration of Leptin”, Issued November 5, 2002</span></div></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">2005</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">U.S. Patent No. 6,884,777 “Method for Treating Respiratory Distress Syndrome”, Issued April 26, 2005</span></div></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">2005</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">Distinguished Alumnus Award, Biological Sciences, University of Delaware (May 2005)</span></div></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">2007</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">Huntington’s Disease Society, Bleyer Family Humanitarian Award (March 2007)</span></div></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">2008</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">U.S. Patent No. 7.354.896 “Administration of Leptin”, Issued April 8, 2008</span></div></div>
<div>
<div style="WIDTH:120px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">2010</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"><span style="FONT-SIZE:14px;">U.S. Patent No. 7,807,643 “Compositions Containing Leptin”, Issued October 5, 2010</span></div>
<div style="WIDTH:620px;VERTICAL-ALIGN:top;DISPLAY:inline-block;"> </div></div>
<h2>Selected Publications</h2>
<ul>
<li>Kirwin, S.M, Vinette, K.M.B., Gonzalez, I.L., Al Abdulwahed, H., Al-Sannaa, N., and <strong>Funanage, V.L.</strong> <a href="http://onlinelibrary.wiley.com/doi/10.1002/mgg3.10/abstract">A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA. Molec. Genet. Genomic Med. 1(2): 113-117, 2013</a>.
<li>Balagopal P.B., Gidding S.S., Buckloh L.M., Yarandi H.N., Sylvester J.E., George D.E., <strong>Funanage, V.L.</strong> <a href="http://www.ncbi.nlm.nih.gov/pubmed/20094040">Changes in circulating satiety hormones in obese children: A randomized controlled physical activity-based intervention study</a>. Obesity 18(9): 1747-1753, 2010. PMID: 20094040
<li>Gomez-Curet I, Robinson KG, <strong>Funanage VL</strong>, Crawford TO, Scavina M, Wang W. <a href="http://dx.doi.org/10.1007/s10048-009-0181-5">Robust quantification of the SMN gene copy number by real-time TaqMan PCR</a>. Neurogenetics. 2009;10(2):171–172.
<li>Wu, C. Y., Gómez-Curet I., <strong>Funanage V. L.</strong>, Scavina M., & Wang W. (2009). <a href="http://www.ncbi.nlm.nih.gov/pubmed/19445707">Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin is p53-independent</a>. Bmc Cell Biology. 10, 40.
<li>Wolfson MR, <strong>Funanage VL</strong>, Kirwin SM, Pilon AL, Shashikant BN, Miller TL, Shaffer TH. <a href="http://dx.doi.org/10.1055/s-0028-1090587">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</a>. Am J Perinatol. 2008;25(10):637–645.
<li>Balagopal P., Graham T.E., Kahn B.B., Altomare A., <strong>Funanage V.</strong>, George D. <a href="http://www.ncbi.nlm.nih.gov/pubmed/17341558">Reduction of elevated serum retinol binding protein (RBP4) in obese children by lifestyle intervention: association with sub-clinical inflammation</a>. J. Clin. Endo. Metab. 92: 1971-1974, 2007. PMID: 17341558
<li>Gomez-Curet I, Robinson KG, <strong>Funanage VL</strong>, Crawford TO, Scavina M, Wang W. <a href="http://dx.doi.org/10.1007/s10048-007-0093-1">Robust quantification of the SMN gene copy number by real-time TaqMan PCR</a>. Neurogenetics. 2007;8(4):271–278.
<li>Kirwin SM, Vinette KM, Schwartz SB, <strong>Funanage VL</strong>, Gonzalez IL. <a href="http://www.ncbi.nlm.nih.gov/pubmed/17241629">Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation</a>. Fertil Steril. 2007;87(4):976.e5–7.
<li>Kirwin S.M., Vinette K.M., Schwartz S.B., <strong>Funanage V.L.</strong>, Gonzalez I.L. <a href="http://www.ncbi.nlm.nih.gov/pubmed/17241629">Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation (Case Report)</a>. Fertil. Steril. Res. 87: e5-7. Epub, 2007. PMID: 17241629
<li>Arn P., <strong>Funanage V.</strong> <a href="http://www.ncbi.nlm.nih.gov/pubmed/16462574">3-Methylglutaconic aciduria disorders: The clinical spectrum increases</a>. J. Pediatr. Hematol. Oncol. 28: 62-63, 2006. PMID: 16462574
<li>Kirwin S.M., Bhandari V., DiMatteo D., Barone C., Johnson L., Paul S., Spitzer A.R., Chander A., Hassink S.G., <strong>Funanage V.L.</strong> <a href="http://www.ncbi.nlm.nih.gov/pubmed/16864704">Leptin enhances lung maturity in the fetal rat</a>. Pediatr. Res. 60: 200-204, 2006. PMID: 16864704
<li>Balagopal B., George D., Yarandi H., <strong>Funanage V.</strong>, Bayne E. <a href="http://jcem.endojournals.org/content/90/11/6192.full.pdf">Reversal of obesity-related hypoadiponectinemia by lifestyle-only intervention- a controlled, randomized study in obese adolescents</a>. J. Clin. Endo. Meta. 90: 6192-6197, 2005. PMID: 16131584
<li>Wang W., O’Connor D., <strong>Funanage V.</strong>, Scavina M. <a href="http://www.sciencedirect.com/science/article/pii/S109671920500003X">Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin-induced cell death</a>. Molec. Genet. Metab. 85: 38-45, 2005 PMID: 15862279
<li>O'Connor D, <strong>Funanage V</strong>, Locke R, Spear M, Leef K. <a href="http://www.ncbi.nlm.nih.gov/pubmed/12906379">Leptin is not present in infant formulas</a>. J Endocrinol Invest. 2003 May;26(5):490
<li>Alavi K, Schwartz MZ, Prasad R, O'connor D, <strong>Funanage V.</strong> <a href="http://www.ncbi.nlm.nih.gov/pubmed/11877642">Leptin: a new growth factor for the small intestine</a>. J Pediatr Surg. 2002 Mar;37(3):327-30.
<li>Larmore KA, O'Connor D, Sherman TI, <strong>Funanage VL</strong>, Hassink SG, Klein KO. <a href="http://www.ncbi.nlm.nih.gov/pubmed/11889458">Leptin and estradiol as related to change in pubertal status and body weight</a>. Med Sci Monit. 2002;8(3):Cr206–10.
<li>Frisch R., Singleton K.R., Moses P.A., Gonzalez I.L., Carango P., Marks H.G., <strong>Funanage V.L.</strong> <a href="http://www.ncbi.nlm.nih.gov/pubmed/11592825">Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy</a>. Molec. Genet. Metab., 74:281-291, 2001. PMID: 11592825
<li>Hobson G.M., Stabley D.L., <strong>Funanage V.L.</strong>, Marks H.G. <a href="http://www.ncbi.nlm.nih.gov/pubmed/11180600">A new polymorphism in the proteolipid protein (PLP1) gene and its use for carrier detection of PLP1 gene duplication in Pelizaeus-Merzbacher disease</a>. Hum Mutat., 17(2):152-155 , 2001. PMID: 1180600
<li>Resto M, O'Connor D, Leef K, <strong>Funanage V</strong>, Spear M, Locke R. <a href="http://www.ncbi.nlm.nih.gov/pubmed/11433094">Leptin levels in preterm human breast milk and infant formula</a>. Pediatrics. 2001 Jul;108(1):E15.
<li>Spear ML, Hassink SG, Leef K, O'Connor DM, Kirwin SM, Locke R, Gorman R, <strong>Funanage VL.</strong> <a href="http://www.ncbi.nlm.nih.gov/pubmed/11474147">Immaturity or starvation? Longitudinal study of leptin levels in premature infants</a>. Biol Neonate. 2001 Jul;80(1):35-40.
<li>Hobson G.M., Davis A.P., Stowell N.C., Kolodny E.H., Sistermans E.A., de Coo I.F.M., <strong>Funanage V.L.</strong>, Marks H.G. <a href="http://www.ncbi.nlm.nih.gov/pubmed/11071483">Mutations in non-coding regions of the proteolipid protein gene in Pelizaeus-Merzbacher Disease</a>. Neurology, 55:1089-1096, 2000. PMID: 11071483
<li>Stanton R.P., Hobson G.M., Montgomery B.E., Moses P.M., Smith-Kirwin S.M., <strong>Funanage V.L.</strong> <a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=Glucocorticoids+decrease+interleukin-6+and+induce+mineralization+of+cultured+bone+marrow+stromal+cells+from+fibrous+dysplasia+of+children.">Glucocorticoids decrease interleukin-6 and induce mineralization of cultured bone marrow stromal cells from fibrous dysplasia of children</a>. J. Bone Miner. Res. 14: 1104-1114, 1999 PMID: 10404010
<li>Smith-Kirwin SM, O'Connor DM, De Johnston J, Lancey ED, Hassink SG, <strong>Funanage VL.</strong> <a href="http://www.ncbi.nlm.nih.gov/pubmed/9589698">Leptin expression in human mammary epithelial cells and breast milk</a>. J Clin Endocrinol Metab. 1998;83(5):1810–1813.
<li>Hassink SG, de Lancey E, Sheslow DV, Smith-Kirwin SM, O'Connor DM, Considine RV, Opentanova I, Dostal K, Spear ML, Leef K, Ash M, Spitzer AR, <strong>Funanage VL.</strong> <a href="http://pediatrics.aappublications.org/content/100/1/e1.full.pdf">Placental leptin: an important new growth factor in intrauterine and neonatal development?</a> Pediatrics. 1997 Jul;100(1):E1.
<li>Johnston J., Kelley R.L., Feigenbaum A., Cox G.F., Iyer G., <strong>Funanage V.L.</strong>, Proujansky R. <a href="http://www.ncbi.nlm.nih.gov/pubmed/9345098">Mutation characterization and genotype-phenotype correlation in Barth Syndrome</a>. Am. J. Hum. Genet. 61: 1053-1058, 1997. PMID: 9345098
<li>Carango P, <strong>Funanage VL</strong>, Quiros RE, Debruyn CS, Marks HG. <a href="http://dx.doi.org/10.1002/ana.410380409">Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease</a>. Ann Neurol. 1995;38(4):610–617.
<li>Krahe R, Ashizawa T, Abbruzzese C, <strong>Vicky L. Funanage</strong>, <a href="http://dx.doi.org/10.1006/geno.1995.1099">Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing</a>. Genomics. 1995;28(1):1–14.
<li>Carango, P., Noble, J.E., Marks, H.G., and <strong>Funanage, V.L.</strong> <a href="http://www.ncbi.nlm.nih.gov/pubmed/8288237">Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy</a>. Genomics 18: 340-348, 1993. PMID: 8288237 </li></ul> | | <img alt="" src="/Images%20Bios/Vicky-Funanage.png" style="BORDER:0px solid;" /> | |
