Vicky L. Funanage, Ph.D.

Bio

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.

 

Personal Statement

I have worked at Nemours/AIDHC for 33 years and served as the Director of Biomedical Research for 14 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.

 

Current Research Support

NIH/INBRE 2P20RR016472-09 (PI: Steiner) - 9/30/01-2/28/2014 (Project Period)
Delaware INBRE - 3/1/12-2/28/2013 (Budget Period)
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.
Role: Principal Investigator for Nemours (10% effort)

Sponsor: Nemours (PI: Schanen) - 9/1/10-12/31/13
Clinical Genetics Cluster
Project 6: Effect of TRPV4 mutation on calcium channel function: toward new therapies
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
Role: Principal Investigator (10% effort)
Prior Research Support:
NIH Center for Pediatric Research P20 RR020173 (PI: Shaffer) - 9/7/04-7/31/10
Mechanisms of cell death in spinal muscular atrophy
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. 
Role: Co-investigator (10% effort)

Musculoskeletal Inherited Disease Laboratory

Laboratory Staff:

  • Iris L. Gonzalez, PhD. Senior Research Scientist (Ph.D., University of Delaware). Conducts diagnostics for the Molecular Diagnostics Lab located within the MID lab.
  • Susan M. Kirwin, 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.
  • Priscilla Moses, (M.S., Immaculata) Conducts DNA diagnostics for the Molecular Diagnostics Lab
  • Danielle Stubbolo, (B.S., University of Delaware) Conducts DNA diagnostics for the Molecular Diagnostics Lab
  • Kathy Vinette, (M.S., Ohio State) Conducts DNA diagnostics for the Molecular Diagnostics Lab

Current projects

  1. “Effect of TRPV4 Mutation on Calcium Channel Function: Toward New Therapies”
    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.  
     
    Current Research Group:

    Vicky L. Funanage, PhD. – Principal Investigator
    Michael Bober, M.D., PhD. – Co-director, Skeletal Dysplasia Program, Division of Medical Genetics
    William Mackenzie, M.D.- Chair, Department of Orthopedics, Alfred I. duPont Hospital for Children
    Susan M. Kirwin, B.S. – Senior Research Associate/MID Laboratory Manager
    Randall Duncan, PhD- Chair, Department of Biological Sciences, University of Delaware
    Lauren Hurd, B.S. – University of Delaware graduate student
     
  2. “Functional Analysis of TBX5/NKX2.5 Mutations in Hypoplastic Left Heart Syndrome”
     
    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. 
     
    Current Research Group:

    Vicky L. Funanage, Ph.D. – Principal Investigator
    Christian Pizarro, M.D. – Director, Nemours Cardiac Cente
    Susan M. Kirwin, B.S. – Senior Research Associate/MID Laboratory Manager
     
  3. “Diabetic and Cardiovascular Risk Factors in Breast-fed and Formula-fed Children”
     
    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.
     
    Current Research Group

    Vicky L. Funanage, Ph.D. – Principal Investigator
    Susan M. Kirwin, B.S. – Senior Research Associate/MID Laboratory Manager
    Sandra Hassink, M.D. – Co-Director of the Nemours Obesity Initiative, Alfred I. duPont Hospital for Children

Positions and Employment

1976 - 1977
Graduate Research Assistant, The Pennsylvania State University, University Park, PA
1977 - 1979
Graduate Teaching Assistant, University of Delaware, Newark, DE
1979 - 1981
Graduate Research Assistant, University of Delaware, Newark, DE
1981 - 1985
Jr. Research Associate, Alfred I. duPont Hospital for Children, Wilmington, DE
1986 - 1995
Research Scientist, Alfred I. duPont Hospital for Children, Wilmington, DE
1987 - present
Chief, Musculoskeletal Inherited Disease Research Program, Department of Medical Research, Alfred I. duPont Hospital for Children, Wilmington, DE
1990 - 2004
Assistant Professor of Pediatrics, Thomas Jefferson University, Philadelphia, PA
1990 - present
Director, Molecular Diagnostic Lab, Alfred I. duPont Hospital for Children, Wilmington, DE
1996 - 1998
Senior Research Scientist, Alfred I. duPont Hospital for Children, Wilmington, DE
1998 - 2000
Director of Medical Research, Alfred I. duPont Hospital for Children, Wilmington, DE
2000 - 2014
Director of Biomedical Research of The Nemours Foundation, The Nemours Foundation, Jacksonville, FL
2014 - present
Operational Vice President, Research - Nemours Children’s Health System
2004 - present
Associate Professor of Pediatrics, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA
2012 - present
Adjunct Professor, College of Health Sciences, University of Delaware
 

Other Experience and Professional Memberships:

1988 - present
American Society for Cell Biology
1986 - present
American Society of Human Genetics
1993 - present
American Association for the Advancement of Science
2000 - present
Alliance of Independent Academic Medical Centers
2004 - present
Internal advisory board, COBRE Center for Pediatric Research
2005 - present
Steering Committee, Delaware INBRE NIH grant
2008 - present
University of Delaware College of Health Sciences Visiting Committee
2009 - 2012
Research and Development Task Force, Delaware Health Sciences Alliance
2009 - present
Delaware Valley Rehabilitation Network Coordinating Council
2011 - present
Coordinating Council, Delaware Health Sciences Alliance
 

Professional Affiliations and Activities:

Steering Committee for the 50th Anniversary of the Admission of Women to Jefferson Medical College
Member, Greater Philadelphia Life Sciences Congress
Phi Sigma Biological Honor Society
1979 - 1981
UNIDEL Cell Control Fellowship, University of Delaware
1987
Invited participant, High School Program, Annual Meeting of the American Society for Cell Biology, St. Louis, MO
Myotonic Dystrophy Working Group, Muscular Dystrophy Association
1997
U.S. Patent No. 5,604,199 “A Method for Treating Muscle Fibrosis”, Issued February 18, 1997
1999
U.S. Patent No. 5,882,868 “Method for Diagnosing Spinal Muscular Atrophy”, Issued March 16, 1999
2002
U.S. Patent No. 6,475,984 “Administration of Leptin”, Issued November 5, 2002
2005
U.S. Patent No. 6,884,777 “Method for Treating Respiratory Distress Syndrome”, Issued April 26, 2005
2005
Distinguished Alumnus Award, Biological Sciences, University of Delaware (May 2005)
2007
Huntington’s Disease Society, Bleyer Family Humanitarian Award (March 2007)
2008
U.S. Patent No. 7.354.896 “Administration of Leptin”, Issued April 8, 2008
2010
U.S. Patent No. 7,807,643 “Compositions Containing Leptin”, Issued October 5, 2010
 

Selected Publications

Principal Investigator
Operational Vice President, Research - Nemours Children’s Health System
Director, Molecular Diagnostic Lab, Nemours/Alfred I duPont Hospital for Children
Chief, Musculoskeletal Inherited Disease Research Program, Department of Medical Research, Nemours/Alfred I. duPont Hospital for Children
Associate Professor of Pediatrics, Jefferson Medical College, Thomas Jefferson University
Adjunct Professor, College of Health Sciences, University of Delaware
Internal Advisory Committee – CPR
Chair IAC, Delaware Clinical and Translational Accel Program

Phone: (302) 651-6819

Fax: (302) 651-6876

Email: vfunanag@nemours.org

Office: A.I. duPont Hospital for Children

Address:
1600 Rockland Road
ARB room 200
Nemours Biomedical Research
Nemours/Alfred I. duPont Hospital for Children
Wilmington, DE 19803

Education

  • B.S., M.S. - Pennsylvania State University
  • Ph.D. - University of Delaware
  • Postdoctoral - A.I. duPont Hospital for Children