Katia Sol-Church, Ph.D.

Research Interests

The mission of the Biomolecular Core Laboratory is to promote clinical and translational biomedical research at Nemours by supporting, in a collaborative and shared-resource environment, Genetics and Genomics based projects.  Current research in the Biomolecular Core Laboratory is focused on identifying the genetic basis and understanding the molecular mechanisms underlying rare pediatric disorders. Dr. Sol-Church's interest is primarily in disorders associated with dysmorphology/skeletal dysplasia and cancer.

The lab’s research program focus primarily on Rasopathy syndromes and the study of pediatric cancers associated with dysregulation of the RAS/MAPK pathway.  The group made seminal discoveries on Costello Syndrome (CS); a rasopathy caused by germline gain-of-function mutations in the oncogene HRAS.  The work currently focuses on the study of Embryonal Rabdomyosarcoma (ERMS) a predominant cancer in CS patients.

We also have recently established a DNA and tissue repository from individuals with distinct genetic conditions of unknown etiology.  The team efforts focus on the identification of the genetic cause of these rare pediatric disorders using whole exome sequencing.  Disorders include the study of Baratela Scott Syndrome (BSS), Diamond-Blackfan Anemia/Treacher Collins Syndrome (DBA-TCS), Downs-Like Syndrome (DWL), Frontal Nasal Dysplasia (FND), and Lateral Meningocele (LMEN).  Strong causative variants were identified in 4 out of the 5 syndromes and are waiting replication and functional studies.

The ultimate goal of these translational Bench-to-Bedside research projects, is to provide Clinicians with tools that can help improve pediatric supportive care and/or therapeutic intervention.

Current Projects

  • Identification of parental origin of germline mutations in rasopathy syndromes (Deb Stabley, Nick Gardner)
  • Elucidating the signaling pathways regulating ERMS in Costello Syndrome (Katie Robbins, Bridget Russo).
  • Exome sequencing of rare genetic disorders of unknown etiology (Deb Stabley, Erin Crowgley). 
  • Identification of novel chromosomal variants in Baratela Scott Syndrome (Deb Stabley, Laura Malinowski)

Research Group

  • Katia Sol-Church, PhD. Lab Head - Senior Research Scientist
  • Katherine Robbins, MS. - PhD Student - Project Leader
  • Bridget Russo, undergraduate Nemours summer  scholar
  • Deborah Stabley, B.S. - Senior Research Assistant - Project Leader
  • Nick Gardner, undergraduate UD
  • Laura Malinowski, undergraduate INBRE summer scholar
  • Jennifer Frenck, B.S. - Assistant Director, Senior Research Assistant
  • Ellen Hitchens, Lab Aid
  • Karen Gripp, M.D. - Division Chief, Genetics-Clinical collaborator

Selected Publications

  • Papadopoulou E, Sifakis S, Sol-Church, K, Stabley DL Gripp KW, Raisaki M, Klein E, Kalmanti M Cardio-Facio-Cutaneous (CFC) Syndrome with lipoma of the corpus callosum: an unusual structural brain anomaly Am J Med Genet A. 2011 Feb 18. doi: 10.1002/ajmg.a.33787. [Epub ahead of print] PMID: 21337689
  • Lin AE, Alexander ME, Colan SD, Kerr B, Rauen KA, Noonan J, Baffa J, Hopkins E, Sol-Church K, Limongelli G, Digilio MC, Marino B, Innes AM, Aoki Y, Silberbach M, Delrue MA, White SM, Hamilton RM, O'Connor W, Grossfeld PD, Smoot LB, Padera RF, Gripp KW. Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome.Am J Med Genet A. 2011 Feb 22. doi: 10.1002/ajmg.a.33857. [Epub ahead of print] PMID: 21344638
  • Gripp KW,  Hopkins E,  Sol-Church K, Stabley DL et al  Phenotypic Analysis of Individuals with Costello syndrome due to HRAS p.G13C  Am J Med Genet  A. 2011 Apr;155A(4):706-16. doi: 0.1002/ajmg.a.33884. Epub 2011 Mar 15. PubMed PMID:21438134.
  • Allanson JE, Annerén G, Aoki Y, Armour CM, Bondeson ML, Cave H, Gripp KW, Kerr B, Nystrom AM, Sol-Church K, Verloes A, Zenker M. Cardio-facio-cutaneous syndrome: does genotype predict phenotype? Am J Med Genet C Semin Med Genet. 2011 May 15;157(2):129-35. doi: 10.1002/ajmg.c.30295. Epub 2011 Apr 14. PubMed PMID: 21495173; PubMed Central PMCID: PMC3086095.
  • Gripp KW, Stabley DL, Geller PL, Hopkins E, Stevenson DA, Carey JC, Sol-Church K. Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome. Am J Med Genet A. 2011 Sep;155A(9):2263-8. doi: 10.1002/ajmg.a.34150. Epub 2011 Aug 10. PubMed PMID: 21834037; PubMed Central PMCID: PMC3158836.
  • Gripp KW, Hopkins E, Serrano A, Leonard NJ, Stabley DL, Sol-Church K. Transmission of the Rare HRAS Mutation (c. 173C>T; p.T58I) Further Illustrates its Attenuated Phenotype Am J Med Genet A. 2012 May;158A(5):1095-101. doi: 10.1002/ajmg.a.35294. Epub 2012 Apr 9. PMID:22488832.
  • Baratela WA, Bober MB, Tiller GE, Okenfuss E, Ditro C, Duker A, Krakow D, Stabley DL, Sol-Church K, Mackenzie W, Lachman R, Scott CI Jr. A newly recognized syndrome with facial features, skeletal dysplasia, and developmental delay.  Am J Med Genet A. 2012 Jun 18. doi: 10.1002/ajmg.a.35445. PMID:22711505
  • Doyle D, Kirwin SM, Sol-Church K, Levine MA. A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism. J Pediatr Endocrinol Metab. 2012;25(7-8):741-6. PubMed PMID: 23155703.
  • Sammon MR, Doyle D, Hopkins E, Sol-Church K, Stabley DL, McGready J, Schulze K, Alade Y, Hoover-Fong J, Gripp KW. Normative growth charts for individuals with Costello syndrome. Am J Med Genet A. 2012 Nov;158A(11):2692-9. doi: 10.1002/ajmg.a.35534. Epub 2012 Aug 7. PubMed PMID: 22887473.
  • Gripp KW, Bifeld E, Stabley DL, Hopkins E, Meien S, Vinette K, Sol-Church K, Rosenberger G. A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development. Am J Med Genet A. 2012 Sep;158A(9):2106-18. doi: 10.1002/ajmg.a.35449. Epub 2012 Jul 20. PubMed PMID: 22821884.
  • Mage DT, Donner EM, Vennemann M, Fleming P, Sol-Church K, Drake R, Gulino SP, All sudden unexplained infant respiratory deaths may result from the same underlying mechanism  Scand J. of Forensic Science 2012; 18(1):1-9
  • McCormick EM, Hopkins E, Conway L, Catalano S, Hossain J, Sol-Church K, Stabley DL, Gripp KW. Assessing genotype-phenotype correlation in Costello syndrome using a severity score. Genet Med. 2013 Feb 21. doi: 10.1038/gim.2013.6 [Epub ahead of print] PubMed PMID: 23429430.
  • Gripp KW, Zand DJ, Demmer L, Anderson CE, Dobyns WB, Zackai EH, Denenberg E, Jenny K, Stabley DL, Sol-Church K. Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis. Am J Med Genet A. 2013 Oct;161(10):2420-30. doi: 10.1002/ajmg.a.36098. Epub 2013 Aug 5. PMID:23918763
  • Schwartz DD, Katzenstein JM, Hopkins E, Stabley DL, Sol-Church K, Gripp KW, Axelrad ME. Verbal memory functioning in adolescents and young adults with Costello syndrome: evidence for relative preservation in recognition memory.Am J Med Genet A. 2013 Sep;161(9):2258-65. doi: 10.1002/ajmg.a.36078. Epub 2013 Aug 5. PMID:23918324
  • Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX; UW Center for Mendelian Genomics, Pilchman L, Sahraoui R, Stabley DL, Sol-Church K. Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. Am J Med Genet A. 2014 Jun 18. doi:10.1002/ajmg.a.36633. [Epub ahead of print] PubMed PMID: 24942156.

Director, Biomolecular Core Laboratory, A.I. duPont Hospital for Children
Assistant Professor of Pediatrics, Thomas Jefferson University

Phone: (302) 651-6705

Fax: Fax: (302) 651-6767

Email: katia.solchurch@nemours.org

Office: A.I. duPont Hospital for Children

Alfred I. duPont Hospital for Children
1600 Rockland Road
P.O. Box 269
Wilmington, DE 19899


  • M.S. - Université Paul Sabatier (France)
  • Ph.D. - McGill University (Canada)
  • Postdoctoral - Dupont-Merck Pharmaceuticals