Susan E. Sparks, MD, PhD

Clinical Geneticist
Department of Pediatrics
Levine Children’s Hospital at Carolinas Medical Center
Adjunct Assistant Professor
University of North Carolina School of Medicine, Chapel Hill, NC
PI/Director, Pediatric Muscular Dystrophy Laboratory
PI, CMC Cooperative International Neuromuscular Research Group (CINRG) Site

Professional Experience

2009-present Adjunct Assistant Professor, Department of Pediatrics, School of Medicine/University of North Carolina, Chapel Hill, NC
2009-present Clinical Geneticist, Department of Pediatrics, Levine Children’s Hospital at Carolinas Medical Center, Charlotte, NC
2006-2009 Assistant Professor, Department of Pediatrics, George Washington University and Division of Genetics and Metabolism, Children’s National Medical Center, Washington, DC
2006-2009 Clinical Geneticist, Department of Pediatrics, Inova Fairfax Hospital for Children, Fairfax, VA
2005-2006 Assistant Clinical Investigator, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD

Education

2002-2005 Clinical Genetics and Clinical Biochemical Genetics Fellow.  Metropolitan Washington, D.C. Medical Genetics Residency/Fellowship Training Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD
1999-2002 Pediatric Intern and Resident.  Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, WI
1999 Doctor of Medicine.  Finch University of Health Sciences/The Chicago Medical School, North Chicago, IL
1997 Doctor of Philosophy in Pharmacology and Molecular Biology.  Finch University of Health Sciences/The Chicago Medical School, North Chicago, IL
1991 Bachelor of Science degree in Biological Sciences with a concentration in Molecular Biology and Genetics.  Carnegie Mellon University, Pittsburgh, PA

Research Interests

Dr. Sparks is a board certified Pediatrician with additional board certifications in Clinical Genetics and Clinical Biochemical Genetics. Prior to joining the faculty at Carolinas Medical Center, she was at Children’s National Medical Center where she completed a Wellstone Post-doctoral fellowship under the direction of Eric Hoffman, PhD. Dr. Sparks is the current director of the Pediatric Muscular Dystrophy Laboratory at Carolinas HealthCare System (the lab is housed in the James G. Cannon Research Center), and PI of Core C: “Molecular Diagnostics and Cell Banking” as part of the “Center of Research Translation:  Systemic Exon-Skipping in Muscular Dystrophy”, with Eric Hoffman, PhD as the PI. In addition to general and metabolic genetics expertise, she has a particular interest in neuromuscular disorders with a biochemical basis. For the past 4 years, she has been the Carolinas Medical Center site PI of the Cooperative International Neuromuscular Research Group (CINRG: www.cinrgresearch.org), and has a translational research program focused on glycosylation defects and neuromuscular disease. She also participates in the weekly multidisciplinary Muscular Dystrophy Association (MDA) clinic at Carolinas Medical Center. 

The Pediatric Muscular Dystrophy Laboratory focuses on translational research in muscular dystrophy, especially Duchenne muscular dystrophy, congenital muscular dystrophy and limb-girdle muscular dystrophy. As PI of the Core C of a multicenter grant, the lab processes blood and tissue samples from patients with Duchenne and Becker muscular dystrophies evaluated at multiple clinical sites. These samples are used to better understand exon-skipping therapy in muscular dystrophy. The other focus of the laboratory is to identify the genetic etiology of patients with unknown subtypes of muscular dystrophy.

Publications

Book Chapters

Sparks SE.  Congenital Disorders of Glycosylation and Epilepsy, Chapter 24 in Inherited Metabolic Epilepsies, P. Pearl, editor, Demos Medical Publishing, LLC, New York. 2013. pp273-286.

Sparks SE, Escolar DE.  Congenital Muscular Dystrophies, Chapter 4 in Handbook of Clinical Neurology: Muscular Dystrophies (vol 101, 3rd series), R. Griggs, AA Amato, editors, MJ Aminoff, F. Boller, DF Swaab, series editors, Elsevier, Amsterdam, The Netherlands,101:47-79. 2011; [PMID: 21496624]

Papers in Referred Journals

Sparks SE, Wassif CA, Goodwin H, Conley SK, Lanham DC, Kratz LE, Hyland K, Gropman A, Tierney E, Porter FD.    Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.  J Inherit Metab Dis. 2014;37(3): 415-20. PMID: 24500076

Blaeser A, Sparks S, Brown SC, Campbell K, Lu Q. Third International Workshop for Glycosylation Defects in Muscular Dystrophies, 18-19 April, 2013, Charlotte, USA.  Brain Pathol. 2014;24(3): 280-4.  PMID 24397416

Blaeser A, Keramaris E, Chan YM, Sparks S, Cowley D, Xiao X, Lu QL.  Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.  Hum Genet. 2013 Aug; 132(8):923-34. [PMID: 23591631]

Valencia CA, Ankala A, Rhodenizer D, Bhide S, Littlejohn MR, Keong LM, Rutkowski A, Sparks S, Bonnemann C, Hegde M.  Comprehensive mutation analysis for congenital muscular dystrophy:  A clinical PCR-based enrichment and next-generation sequencing panel.  PLoS One. 2013 8(1): e53083 [PMID: 23326386]

Sparks SE. Congenital protein hypoglycosylation diseases. App Clin Genet. 2012:5:43-54. [PMCID: PMC3681192]

Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh T, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG.  Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.  Hum Mutat. 2011 Jan;33(1):165-79. [PMID21948486]

Theisen A, Rosenfeld JA, Shane K, McBride KL, Atikin JF, Gaba C, Hoo J, Kurczynski TW, Schnur RE, Coffey LB, Zackai EH, Schimmenti L, Friedman N, Zabukovec M, Ball S, Pagon R, Lucas A, Brasington CK, Spence JE, Sparks S, Banks V, Smith W, Friedberg T, Wyatt PR, Aust M, Tervo R, Crowley A, Skidmore D, Lamb AN, Ravnan B, Sahoo T, Schultz R, Torchia BS, Sgro M, Chitayat D, Shaffer LG.  Refinement of the region for split hand/foot malformation 5 on 2q31.1.  Mol Syndromol. 2010;1(5):262-271. [PMID: 22140379]

Raivio T, Sidis Y, Plummer L, Chen H, Ma J, Mukherjee A, Jacobson-Dickman E, Quinton R, Van Vliet G, Lavoie H, Hughes VA, Dwyer A, Hayes FJ, Xu S, Sparks S, Kaiser UB, Mohammadi M, Pitteloud N. Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism.  J. Clin. Edocrinol. Metab. 2009 Nov;94(11): 4380-90.  [PMID: 19820032]

Merideth MA, Vincent LM, Sparks SE, Hess RA, Manoli I, O’Brien KJ, Tsilou E, White JG, Huizing M, Gahl WA.  Hermansky-Pudlak Syndrome in two African-American brothers. Am J Med Genet A. 2009 May;149A(5): 987-92.  [PMID: 19334085]

Nagaraju K, Rawat R, Veszelovszky E, Thapliyal R, Kesari A, Sparks S, Raben N, Plotz P, Hoffman EP.  Dysferlin deficiency enhances phagocytosis by monocytes:  A model for the inflammatory onset of limb-girdle muscular dystrophy 2B. Am J Pathol. 2008 Mar;172(3):774-85.  [PMID: 18276788]

Solomon B, Turner C, Klugman D, Sparks S.  Trisomy 9 mosaicism-XX sex reversal. Am J Med Genet A. 2007 Nov 15;143A(22):2688-91.  [PMID: 17935231]

Krasnewich D, O’Brien K, Sparks S.  Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia). Am J Med Genet C Semin Med Genet. 2007 Aug 15;145C(3):302-306.  [PMID: 17639595]

Sparks S, Rakocevic G, Joe G, Shrader J, Sonies B, Manoli I, Ciccone C, Krasnewich D, Huizing M, Dalakas M, Gahl W.  Pilot Study of the Use of Intravenous Immune Globulin in Hereditary Inclusion Body Myopathy, BMC Neurol. 2007 Jan 29;7:3.  [PMID: 17261181]

Savelkoul PJM, Manoli I, Sparks SE, Ciccone C, Gahl WA, Krasnewich DM, Huizing M.  Normal Sialylation of Serum N-linked and O-GalNAc-linked Glycans in Hereditary Inclusion Body Myopathy.  Mol. Genet. Metab. 2006 Aug;88(4):389-390.  [PMID: 16762577]
 
Sparks SE.  Inherited disorders of glycosylation. Mol Genet Metab. 2006 Jan;87(1):  1-7.  [PMID: 16511948]

Sparks SE, Ciccone C, Lalor M, Orvisky E, Klootwijk R, Savelkoul PJ, Dalakas MC, Krasnewich DM, Gahl WA, Huizing M. Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human Hereditary Inclusion Body Myopathy. Glycobiology. 2005 Nov;15(11): 1102-10. [PMID: 15987957]

Huizing M, Rakocevic G, Sparks SE, Mamali I, Shatunov A, Goldfarb L, Krasnewich D, Gahl WA, Dalakas MC.  Hypoglycosylation of α-dystroglycan in patients with hereditary IBM due to GNE mutations. Mol Genet Metab. 2004 Mar;81(3):196-202.  [PMID: 14972325]

Invited Publications

Quijano-Roy S, Sparks S, Rutkowski A.  (2012)  LAMA2-Related Muscular Dystrophy in:  Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors.  GeneReviewsTM [Internet].  Seattle (WA):  University of Washington, Seattle; 1993-2012 Jun 07. 

Sparks S, Quijano-Roy S, Harper A, Rutkowski A, Gordon E, Hoffman EP, Pegoraro E: Congenital Muscular Dystrophy Overview (January 2011) in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010. Available at http://www.genetests.org.

Sparks S.  Inherited disorders of glycosylation, Encyclopedia of Life Sciences, John Wiley & Sons, Ltd:  Chichester. 2007 http://www.els.net/ [DOI:  10.1002/9780470015902.a0020230]

Sparks SE, Krasnewich DM.  Congenital Disorders of Glycosylation Overview.  In:  GeneReviews at GeneTests:  Medical Genetics Information Resource [database online]. 2005.  Copyright, University of Washington, Seattle, 1997-2005.  Available at http://www.genetests.org.

Sparks SE, Krasnewich DM.  Congenital Disorder of Glycosylation Type Ia. In:  GeneReviews at GeneTests:  Medical Genetics Information Resource [database online].  2005Copyright, University of Washington, Seattle, 1997-2005.  Available at http://www.genetests.org.

Papers in Non-Referred Journals

Sparks SE and King D.  Bone Marrow and the GH/IGF-I Axis:  Bone Remodeling and Immune Function. Clin Imm Newsletter. 1997;17:93-102.

Mentored Students

Cannon Summer Scholar:  Rachel Skains, Summer 2013
Cannon Summer Scholar:  Logan Moseley, Summer 2012
UNC-Charlotte, MSPH internship:  Jordan Lyerly, 7/11- present
Cannon Summer Scholar:  Jaclyn Cika, Summer 2011 (currently applying for graduate school)
Queens University Student Internship:  Kathryn Sylvester, 1/11-8/11 (currently applying for medical school)
Cannon Summer Scholar:  Jaclyn Dovico, Summer 2010
Physician/ UMD graduate student Suma Babu, 10/07-2/2009
GWU Medical Student Sophia Bous, Summer 2007

Grants

Current and Pending Funding

Grant Title: Longitudinal Assessment, Gait Analysis, and Bio-repository of Limb-Girdle Muscular Dystrophy
Funding Agency: Muscular Dystrophy Association
Role: Principal Investigator
Years: 2013-2014

Grant Title: A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial of Tadalafil for Duchenne Muscular Dystrophy
Funding Agency: Eli Lilly
Role: Co-Principal Investigator
Years: 2013-2016

Grant Title: Duchenne Muscular Dystrophy Tissue Bank for Exon-skipping
Funding Agency: NIH/NIAMS
Role: Principal Investigator
Years: 2013-2016

Grant Title: Becker Muscular Dystrophy:  A natural history study to predict efficacy of exon skipping
Funding Agency: NIH/NIAMS
Role: Co-Principal Investigator
Years: 2013-2014

Grant Title: Genetic Identification of Limb-girdle muscular dystrophy
Funding Agency: Muscular Dystrophy Association
Role: Principal Investigator
Years: 2013-

Grant Title: Longitudinal study of the relationship between impairment, activity limitation, participation and quality of life in persons with confirmed Duchenne muscular dystrophy
Funding Agency: NIH/NIAMS and Parent Project Muscular Dystrophy (PPMD)
Role: Co-Principal Investigator
Years: 2013-2014

Grant Title: Multicenter collaborative study on the clinical features, expression profiling, and quality of life of infantile onset fascioscapulohumeral dystrophy
Funding Agency: FSHD Foundation
Role: Co-Principal Investigator
Years: 2013-2015

Grant Title: Open-label, multiple-dose, efficacy, safety, and tolerability study of Eteplirsen in subjects with Duchenne muscular dystrophy
Funding Agency: Jain Foundation
Role: Co-Principal Investigator
Years:  2012-indefinite

Grant Title: Clinical outcome study for dysferlinopathies
Funding Agency: Jain Foundation
Role: Co-Principal Investigator
Years: 2012-indefinite

Grant Title: DELOS:  A Phase III Double-blind, randomized, placebo-controlled study of the efficacy, safety, and tolerability of Idebenone in patients with Duchenne muscular dystrophy
Funding Agency: Santhera
Role: Co-Principal Investigator
Years: 2012-2015

Grant Title: Neuromuscular Data Registry
Funding Agency: National Philoptochos Children’s Medical Fund
Role: Principal Investigator
Years: 2011-indefinite

Grant Title: Longitudinal Assessment of Limb-Girdle muscular dystrophy
Funding Agency: Muscular Dystrophy Association
Role: Principal Investigator
Years: 2011-indefinite

Grant Title: Lysosomal Storage Disease Registry
Funding Agency: Genzyme
Role: Co-Principal Investigator
Years: 2010-2019

Grant Title: Assessment of In-vitro exon-skipping therapy in patients with Duchenne Muscular Dystrophy
Funding Agency: NIH
Role: Principal Investigator
Years: 2010-indefinite

Grant Title: Clinical Trial of CoEnzyme Q10 and Lisinopril in Muscular Dystrophies
Funding Agency: Department of Defense
Role: Co-Principal Investigator
Years: 2010-2016

Clinical Research

CHAR0312:  Duchenne Muscular Dystrophy Tissue Bank for Exon-skipping
Project and Site PI:  2013-present
Investigator initiated, pre-clinical
Funding:  National Institutes of Health/NIAMS

PITT0112:  Becker Muscular Dystrophy:  A natural history study to predict efficacy of exon skipping
Site PI:  Carolinas Medical Center 2013-present
Investigator initiated, observational
Funding:  National Institutes of Health/NIAMS

Genetic Identification of Limb-girdle muscular dystrophy
PI 2013-present
Investigator initiated
Funding:  Muscular Dystrophy Association

UCD0305:  Longitudinal study of the relationship between impairment, activity limitation, participation and quality of life in persons with confirmed Duchenne muscular dystrophy
Site PI:  Carolinas Medical Center 2013-present
Investigator initiated, observational
Funding:  National Institutes of Health/NIAMS and Parent Project Muscular Dystrophy (PPMD)

ACH0311:  Multicenter collaborative study on the clinical features, expression profiling, and quality of life of infantile onset fascioscapulohumeral dystrophy
Site PI:  Carolinas Medical Center 2013-present
Investigator initiated, observational
Funding:  FSHD Foundation

Open-label, multiple-dose, efficacy, safety, and tolerability study of Eteplirsen in subjects with Duchenne muscular dystrophy
Site PI:  Carolinas Medical Center 2012-present

Clinical outcome study for dysferlinopathies
Site PI:  Carolinas Medical Center 2012-present
Observational Funding:  Jain Foundation

DELOS:  A Phase III Double-blind, randomized, placebo-controlled study of the efficacy, safety, and tolerability of Idebenone in patients with Duchenne muscular dystrophy
Site PI;  Carolinas Medical Center 2012-present
Phase III treatment trial
Funding:  Santhera

Longitudinal Down Syndrome Study
Site PI:  Carolinas Medical Center 2012-present
Investigator initiated, observational, registry

Neuromuscular Data Registry
PI 2011-present
Investigator Initiated, Registry
Funding:  National Philoptochos Children’s Medical Fund

Longitudinal Assessment of Limb-Girdle muscular dystrophy
PI 2011-present Investigator initiated, observational
Funding:  Muscular Dystrophy Association

Lysosomal Storage Disease Registry
Site PI 2010-present
Registry
Funding:  Genzyme

MPSVI Clinical Surveillance Program
Site PI 2010-present
Registry
Funding:  BioMarin

Assessment of In-vitro exon-skipping therapy in patients with Duchenne Muscular Dystrophy
PI 2010-present
Investigator initiated, pre-clinical
Funding:  National Institutes of Health

PITT0908:  Clinical Trial of CoEnzyme Q10 and Lisinopril in Muscular Dystrophies
Site PI:  Carolinas Medical Center 2010-present
Investigator Initiated, randomized therapeutic
Funding:  Department of Defense

CNMC0609:  Comparative Study of Clinical Endpoints in Duchenne Muscular Dystrophy:  HHM vs. CQMS
Site PI:  Carolinas Medical Center 2010-present
Investigator Initiated, randomized evaluation
Funding:  Muscular Dystrophy Association

Cooperative International Neuromuscular Research Group (CINRG) Clinical Evaluator Training
Site PI:  Carolinas Medical Center 2010-present
CINRG sponsored/Children’s National Medical Center

Evaluation of Limb-Girdle Muscular Dystrophy
Site PI-Carolinas Medical Center 2009-present
Project PI:  2010-present
Investigator initiated, observational
Funding:  Muscular Dystrophy Association

Pilot Study of the Use of Intravenous Immune Globulin in Hereditary Inclusion Body Myopathy
Sub-Investigator:  2005-2006
Investigator initiated, treatment
National Institutes of Health Intramural program:  NHGRI

Investigation of Simvastatin in Smith-Lemli-Opitz Syndrome
Sub-Investigator:  2003-2008
Investigator initiated, randomized, placebo-controlled therapeutic
National Institutes of Health Intramural Program:  NICHD

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