Current Environment:

Caroline Andrews | Overview

Caroline Andrews, M.S., Director, Clinical Research Program-Engle Lab & Center for Strabismus Research

Caroline Andrews, M.S., is Director of the Clinical Research Program for the Engle Lab and Center for Strabismus Research at Boston Children's Hospital with responsibility for managing and organizing the recruitment of pedigrees, overseeing medical record review, scheduling of enrollments, consenting of research subjects, database development and entry, and management of DNA processing and storage.  She is also responsible for establishing collaborations within the US and overseas, maintaining ties with collaborators and participants and ensuring systems and procedures are in place to ensure accuracy, consistency and conformance with IRB protocols.  She has established collaborative sites at Children's Hospital of Pennsylvania, Cleveland Clinic, University of Leicester School of Medicine-UK, University of Western Australia; Centre for Eye Research Australia-Melbourne-Australia and King Faisal Specialist Hospital and Research Center-Riyadh, Saudia Arabia. The current cohort exceeds 10,000 study participants.  Caroline also coordinates and schedules the outpatient CCDD clinic.

Caroline joined the group in June 2001 after relocating to the US from England. Her prior experience included working as Research & Information Executive at Epilepsy Research Foundation in London with responsibility of coordinating & organizing scientific meetings and establishing scientific contacts and, prior to that, worked at various research laboratories in London. Caroline has a MS in Forensic Science from Strathclyde University, Scotland and a BS Hons in Biology and Computer Science from Keele University, Staffordshire, England.


Publications/Original Reports:

  1. Pahlevan AA, Wright DJ, Andrews C, George KM, Small PL, Foxwell BM. The inhibitory action of Mycobacterium ulcerans soluble factor on monocyte/T cell cytokine production and NF-kappa B function. J Immunol. 1999;163(7):3928-35.
  2. Denys A, Udalova IA, Smith C, Williams LM, Ciesielski CJ, Campbell J, Andrews C, Kwaitkowski D, Foxwell BM. Evidence for a dual mechanism for IL-10 suppression of TNF-alpha production that does not involve inhibition of p38 mitogen-activated protein kinase or NF-kappa B in primary human macrophages. J Immunol. 2002;168(10):4837-45.
  3. Richens A, Andrews C. Clinical practice: antimalarial prophylaxis in patients with epilepsy [corrected]. Epilepsy Res. 2002;51(1-2):1-4.
  4. Al-Baradie R, Yamada K, St Hilaire C, Chan WM, Andrews C, McIntosh N, Nakano M, Martonyi EJ, Raymond WR, Okumura S, Okihiro MM, Engle EC. Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. Am J Hum Genet. 2002;71(5):1195-9.
  5. Uyama E, Yamada K, Kawano H, Chan WM, Andrews C, Yoshioka M, Uchino M, Engle EC. A Japanese family with FEOM1-linked congenital fibrosis of the extraocular muscles type 1 associated with spinal canal stenosis and refinement of the FEOM1 critical region. Neuromuscul Disord. 2003;13(6):472-8.
  6. Yamada K, Andrews C, Chan WM, McKeown CA, Magli A, de Berardinis T, Loewenstein A, Lazar M, O'Keefe M, Letson R, London A, Ruttum M, Matsumoto N, Saito N, Morris L, Del Monte M, Johnson RH, Uyama E, Houtman WA, de Vries B, Carlow TJ, Hart BL, Krawiecki N, Shoffner J, Vogel MC, Katowitz J, Goldstein SM, Levin AV, Sener EC, Ozturk BT, Akarsu AN, Brodsky MC, Hanisch F, Cruse RP, Zubcov AA, Robb RM, Roggenkaemper P, Gottlob I, Kowal L, Battu R, Traboulsi EI, Franceschini P, Newlin A, Demer JL, Engle EC. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet. 2003;35(4):318-21.
  7. Jen JC, Chan WM, Bosley TM, Wan J, Carr JR, Rub U, Shattuck D, Salamon G, Kudo LC, Ou J, Lin DD, Salih MA, Kansu T, Al Dhalaan H, Al Zayed Z, MacDonald DB, Stigsby B, Plaitakis A, Dretakis EK, Gottlob I, Pieh C, Traboulsi EI, Wang Q, Wang L, Andrews C, Yamada K, Demer JL, Karim SS, Alger JR, Geschwind DH, Deller T, Sicotte NL, Nelson SF, Baloh RW, Engle EC. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science, 2004;304:1509-13.
  8. Yamada K, Chan WM, Andrews C, Bosley TM, Sener EC, Zwaan JT, Mullaney PB, Ozturk BT, Akarsu AN, Sabol LJ, Demer JL, Sullivan TJ, Gottlob I, Roggenkaemper P, Mackey DA, De Uzcategui CE, Uzcategui N, Ben-Zeev B, Traboulsi EI, Magli A, de Berardinis T, Gagliardi V, Awasthi-Patney S, Vogel MC, Rizzo JF 3rd, Engle EC. Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). Invest Ophthalmol Vis Sci. 2004 Jul;45(7):2218-23.
  9. Tischfield MA, Bosley TM, Salih MA, Alorainy IA, Sener EC, Nester MJ, Oystreck DT, Chan WM, Andrews C, Erickson RP, Engle EC. Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Nat Genet. 2005 Oct; 37(10):1035-7.
  10. Yamada K, Hunter DG, Andrews C, Engle EC. A novel KIF21A mutation in a patient with CFEOM1 and Marcus Gunn jaw winking. Arch Ophthalmol. 2005 Sep;123(9):1254-9.
  11. Chan W-M, Traboulsi EI, Arthur B, Friedman N, Andrews CC, Engle EC. Horizontal Gaze Palsy with Progressive Scoliosis can result from compound heterozygous mutations in ROBO3. J Med Genet. 2006;43(3):e11.
  12. Tischfield MA, Chan W-M, Grunert J-F, Andrews C, Engle EC. HOXA1 mutations are not a common cause of Duane Anomaly. Am J Med Genet A. 2006: 140(8):900-2.
  13. Engle EC, Andrews C, Law K, Demer JL. Two pedigrees segregating Duane’s retraction syndrome as a dominant trait map to the DURS2 genetic locus. IOVS, 2007;48(1):189-93.
  14. Chan W-M, Andrews C, Dragan L, Fredrick D, Armstrong L, Lyons C, Geraghty MT, Hunter DG, Yazdani A, Traboulsi EI, Pott JWR, Gutowski NJ, Ellard S, Young E, Hanisch F, Koc F, Schnall B, Engle EC. Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1. BMC Genetics, 2007;8(1):26.
  15. Dumars S, Andrews C, Chan W-M, Engle EC, Demer JL. Magnetic resonance imaging of the endophenotype of a novel familial Moebius-like syndrome. J AAPOS. 2008 Aug;12(4):381-9.
  16. Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan W-M, Law K, Crosier M, Lindsay S, Cheung M, Allen J, Gutowski NJ, Ellard S, Young E, Iannaccone A, Appukuttan B, Stout JT, Christiansen S, Ciccarelli ML, Baldi A, Campioni M, Zenteno JC, Davenport D, Mariani LE, Sahin M, Guthrie S, Engle EC. Human CHN1 mutations hyperactivate α2-chimaerin and cause Duane’s retraction syndrome. Science, 2008 Aug 8;321(5890):839-43.
  17. Miyake N, Andrews C, Fan W, He W, Chan W-M, Engle EC. CNH1 mutations are not a common cause of sporadic Duane’s retraction syndrome. Am J Med Genet A, 2010, Jan;152A(1):215-17.
  18. Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan W-M, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, Traboulsi EI, Pomeroy SL, Hunter DG, Soul JS, Newlin A, Sabol LJ, Doherty EJ, de Uzcategui CE, De Uzcategui N, Collins ML, Sener EC, Wabbels, B, Hellebrand H, Meitinger T, de Berandinis T, Magli A, Schiavi, C, Pastore-Trossello M, Koc F, Wong AM, Levin AV, Geraghty MT, Descartes M, Flaherty MP, Jamieson RV, Moller HU, Meuthen I, Callen DF, Kerwin J, Lindsay S, Meindl A, Gupta ML Jr, Pellman D, Engle EC. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell. 2010; 140: 74-87. PMCID: PMC Journal – In process
  19. Rankin JK, Andrews C, Chan WM, Engle, EC. HOXA1 mutations are not a common cause of Mobius syndrome. J AAPOS. 2010 Feb;14(1):78-80. 
  20. Yang X, Yamada K, Katz B, Guan H, Wang L, AndrewsC, Zhao G, Engle EC, Chen H, Tong Z, Kong J, Hu C, Kong Q, Fan G, Wang Z, Ning M, Zhang S, Xu J, Zhang K.  KIF21A mutations in two Chinese families with congenital fibrosis of the extrocular muscles (CFEOM). Mol Vis. 2010 Oct 13;16:2062-70.
  21. Thomas MG, Kumar A, Mohammad S, Proudlock FA, Engle EC, AndrewsC, Chan WM, Thomas S, Gottlob I.  Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity?  Ophthalmology. 2011 Aug;118(8):1653-60. Epub 2011 Apr 29. Erratum in: Ophthalmology. 2011 Oct;118(10):1910.
  22. Chan WM, Miyake N, Zhu-Tam L, AndrewsC, Engle EC.  Two novel mutations in 2 families with Duane retraction syndrome. Arch Ophthalmol. 2011 May;129(5):649-52.
  23. Miyake N, Demer JL, Shaaban S, AndrewsC, Chan WM, Christiansen SP, Hunter DG, Engle EC.  Expansion of the CHN1 strabismus phenotype. Invest Ophthalmol Vis Sci. 2011 Aug 11;52(9):6321-8. Print 2011 Aug.
  24. VanderVeen DK, Andrews C, Nihalani BR, Engle EC.  Crystalline cataract caused by a heterozygous missense mutation in yD-crystallin (CRYGD).  Mol Vis. 2011;17:3333-8.
  25. Webb BD, Shaaban S, Gaspar H, Cunha LF, Schubert CR, Hao K, Robson CD, Chan WM, Andrews C, MacKinnon S, Oystreck DT, Hunter DG, Iacovelli AJ, Ye X, Camminady A, Engle EC, Jabs EW.HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice. Am J Hum Genet. 2012 Jul 13;91(1):171-9.
  26. Cederquist GY, Luchniak A, Tischfield MA, Peeva M, Song Y, Menezes MP, Chan WM, Andrews C, Chew S, Jamieson RV, Gomes L, Flaherty M, Grant PE, Gupta ML Jr, Engle EC. An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.  Hum Mol Genet 2012 Oct 5.


Reviews/Clinical Reports, Educational Studies:

  1. Andrews CV, Yamada K, Engle EC . Congenital Fibrosis of the Extraocular Muscles. In: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2004. Available at 2004;
  2. Andrews CV, Desai J, Hunter DG, Engle EC. Congenital Fibrosis of the Extraocular Muscles. In: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2004.September 2006 [updated 2011 Jul 28].;
  3. Andrews CV, Hunter DG, Engle EC. Duane Syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2004. June, 2007 [updated 2010 Feb 18];