Harvard Catalyst Profiles

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Amy O'Connell, M.D.,Ph.D.


Merrimack College, North Andover, MAB.S.2002Biochemistry
Jefferson Medical College/Thomas Jefferson University, Philadelphia, PAM.D./Ph.D.2009Immunology
University of Vermont, Burlington, VTResidency2012Pediatrics
Boston Children's Hospital, Boston, MAFellowship2014Allergy/Immunology
Boston Children's Hospital, Boston, MAFellowship2017Neonatology

Dr. O'Connell has a history of research in immunology and the molecular characterization of oprhan diseases. Her current projects include:
1. Determining the importance of Wnt2b for intestinal health
2. Examining the role of cellular and molecular developmental changes of the intestine in susceptibility to necrotizing enterocolitis.
3. Assessing whether immune receptor repertoire analysis can improve immunodeficiency screening in premature infants.

Available: 01/10/22, Expires: 03/01/24

Our lab studies intestinal and immune development with a focus on premature infants. We have also characterized several novel genetic diseases and use these to help understand normal development. Current projects in the lab include: 1. Understanding how loss of Wnt2b causes decreased intestinal stem cells. 2. Developing an organoid model for necrotizing enterocolitis (NEC), a deadly intestinal disease in premature infants. 3. Developing a novel organoid system to model tissue resident immune cells in the intestine. 4. Characterizing additional novel orphan diseases, particularly those affecting the immune system and/or intestine. 5. Studying developmental changes that make a premature baby susceptible to NEC.

Available: 12/01/22, Expires: 12/31/23

Our lab is becoming more interested in clinical usefulness of intravenous immunoglobulin (IVIG) for a variety of autoimmune conditions. IVIG is used in the neonatal intensive care unit (NICU) for autoimmune hemolytic disease, neonatal thrombocytopenia, and other situations, however, its mechanism of action is not well understood. In this first step project we would like review clinical cases where IVIG was used in the Harvard Longwood area NICUs in order to get a better sense of case numbers to plan for a prospective clinical trial. This project is very doable for a student project in a reasonable time frame.

The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. (O'Connell) Jul 1, 2020 - Jun 30, 2022
    Manton Center for Orphan Disease Research Innovation Fund
    Primary and Secondary Immunodeficiency Disorders in Extremely Premature Infants
    Role Description: Assessing a test to increase specificity of SCID newborn screening in extremely premature infants and characterizing a novel immune disorder in premature infants.
  2. (O'Connell) Jul 1, 2020 - Jun 30, 2022
    Boston Children's Hospital Office of Faculty Development
    Wnt2b in Susceptibility to Necrotizing Enterocolitis (NEC)
    Role Description: Examining whether Wnt2b-producing telocytes are protective against NEC
  3. PA-19-117 (O'Connell) Jan 11, 2020 - Dec 31, 2024
    The Role of Wnt2b in Small Intestinal Health
    Role Description: Determining why Wnt2b is required for human intestinal health.
  4. KL2/CMeRIT (O'Connell) Oct 1, 2017 - Sep 30, 2019
    Harvard Catalyst
    Wnt2b in Intestinal Homeostasis
    Role Description: The goal of this project is to clarify the requirement for Wnt2b in intestinal homeostasis in humans. We hypothesize that absence of Wnt2b leads to decreased transcription of beta-catenin target genes, resulting in a diminished crypt-based columnar intestinal stem cell (CBC iSC) pool and inflammatory dysregulation.
    Role: Primary Investigator

Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Forget A, Adegboye C, Alfieri M, Yim R, Flaherty K, Mathur H, O'Connell AE. A sepsis trigger tool reduces time to antibiotic administration in the NICU. J Perinatol. 2023 Feb 22. PMID: 36813901.
    Citations:    Fields:    
  2. Morton SU, Schnur M, Kerper R, Young V, O'Connell AE. Premature Infants Have Normal Maturation of the T Cell Receptor Repertoire at Term. Front Immunol. 2022; 13:854414. PMID: 35707545; PMCID: PMC9189380.
    Citations:    Fields:    Translation:Humans
  3. Gehlhaar A, Inala A, Llivichuzhca-Loja D, Silva TN, Adegboye CY, O'Connell AE, Konnikova L. Insights into the Role of Commensal-Specific T Cells in Intestinal Inflammation. J Inflamm Res. 2022; 15:1873-1887. PMID: 35342295; PMCID: PMC8943607.
    Citations: 1     
  4. Culic I, O'Connell AE. Identifying Neonates at Lowest Risk for Sepsis. Pediatrics. 2022 02 01; 149(2). PMID: 35022789.
    Citations:    Fields:    Translation:Humans
  5. Gordon SM, O'Connell AE. Inborn Errors of Immunity in the Premature Infant: Challenges in Recognition and Diagnosis. Front Immunol. 2021; 12:758373. PMID: 35003071; PMCID: PMC8738084.
    Citations: 2     Fields:    Translation:HumansAnimals
  6. Zhang YJ, Jimenez L, Azova S, Kremen J, Chan YM, Elhusseiny AM, Saeed H, Goldsmith J, Al-Ibraheemi A, O'Connell AE, Kovbasnjuk O, Rodan L, Agrawal PB, Thiagarajah JR. Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis. Eur J Hum Genet. 2021 06; 29(6):998-1007. PMID: 33526876; PMCID: PMC8187348.
    Citations: 2     Fields:    Translation:Humans
  7. O'Connell AE, Guseh S, Lapteva L, Cummings CL, Wilkins-Haug L, Chan J, Peranteau WH, Almeida-Porada G, Kourembanas S. Gene and Stem Cell Therapies for Fetal Care: A Review. JAMA Pediatr. 2020 10 01; 174(10):985-991. PMID: 32597943.
    Citations: 2     Fields:    Translation:HumansAnimals
  8. Frazer LC, O'Connell AE. Primary immunodeficiency testing in a Massachusetts tertiary care NICU: persistent challenges in the extremely premature population. Pediatr Res. 2021 02; 89(3):549-553. PMID: 32268342.
    Citations: 4     Fields:    Translation:HumansCellsPHPublic Health
  9. Maciag MC, Ward SL, O'Connell AE, Broyles AD. Hypersensitivity to tetracyclines: Skin testing, graded challenge, and desensitization regimens. Ann Allergy Asthma Immunol. 2020 06; 124(6):589-593. PMID: 32087343.
    Citations: 2     Fields:    Translation:Humans
  10. Lekbua A, Ouahed J, O'Connell AE, Kahn SA, Goldsmith JD, Imamura T, Duncan CN, Kelsen JR, Worthey E, Snapper SB, Softic S. Risk-factors Associated With Poor Outcomes in VEO-IBD Secondary to XIAP Deficiency: A Case Report and Literature Review. J Pediatr Gastroenterol Nutr. 2019 07; 69(1):e13-e18. PMID: 31232887; PMCID: PMC6607918.
    Citations: 9     Fields:    Translation:Humans
  11. O'Connell AE, Gerashchenko MV, O'Donohue MF, Rosen SM, Huntzinger E, Gleeson D, Galli A, Ryder E, Cao S, Murphy Q, Kazerounian S, Morton SU, Schmitz-Abe K, Gladyshev VN, Gleizes PE, Séraphin B, Agrawal PB. Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation. PLoS Genet. 2019 02; 15(2):e1007917. PMID: 30707697; PMCID: PMC6373978.
    Citations: 5     Fields:    Translation:HumansAnimalsCells
  12. O'Connell AE. Primary Immunodeficiency in the NICU. Neoreviews. 2019 02; 20(2):e67-e78. PMID: 31261087.
    Citations: 4     Fields:    Translation:HumansPHPublic Health
  13. Nelson RW, O'Connell AE, Alroqi F, Kawai K, Young MC, Broyles AD. Duplicate skin prick testing in the assessment of food allergy. J Allergy Clin Immunol Pract. 2019 Feb; 7(2):675-677. PMID: 30075343.
    Citations:    Fields:    Translation:Humans
  14. O'Connell AE, Zhou F, Shah MS, Murphy Q, Rickner H, Kelsen J, Boyle J, Doyle JJ, Gangwani B, Thiagarajah JR, Kamin DS, Goldsmith JD, Richmond C, Breault DT, Agrawal PB. Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations. Am J Hum Genet. 2018 07 05; 103(1):131-137. PMID: 29909964.
    Citations: 4     Fields:    Translation:HumansCells
  15. O’Connell AE, Mulla BM, O’Brien K, Yoon EJ, Carterson A, Brodsky D. NeoReviews. Perinatal Transient Myeloproliferative Disorder in Trisomy 21. 2016; 17(11):e636-e644. View Publication.
  16. O'Connell AE, Volpi S, Dobbs K, Fiorini C, Tsitsikov E, de Boer H, Barlan IB, Despotovic JM, Espinosa-Rosales FJ, Hanson IC, Kanariou MG, Martínez-Beckerat R, Mayorga-Sirera A, Mejia-Carvajal C, Radwan N, Weiss AR, Pai SY, Lee YN, Notarangelo LD. Next generation sequencing reveals skewing of the T and B cell receptor repertoires in patients with wiskott-Aldrich syndrome. Front Immunol. 2014; 5:340. PMID: 25101082; PMCID: PMC4102881.
    Citations: 27     Fields:    
  17. De Ravin SS, Parta M, Sutton DA, Wickes BL, Thompson EH, Wiederhold NP, Nakasone KK, Alimchandani M, OConnell A, Notarangelo L, Kang E, Malech HL, Zelazny AM. Paravertebral mushroom: identification of a novel species of Phellinus as a human pathogen in chronic granulomatous disease. J Clin Microbiol. 2014 Jul; 52(7):2726-9. PMID: 24829241.
    Citations: 3     Fields:    Translation:HumansAnimals
  18. O'Connell AE, Lee JP, Yee C, Kesselheim J, Dioun A. Successful desensitization to brentuximab vedotin after anaphylaxis. Clin Lymphoma Myeloma Leuk. 2014 Apr; 14(2):e73-5. PMID: 24373790.
    Citations: 4     Fields:    Translation:Humans
  19. Bonne-Année S, Kerepesi LA, Hess JA, O'Connell AE, Lok JB, Nolan TJ, Abraham D. Human and mouse macrophages collaborate with neutrophils to kill larval Strongyloides stercoralis. Infect Immun. 2013 Sep; 81(9):3346-55. PMID: 23798541.
    Citations: 45     Fields:    Translation:HumansAnimalsCells
  20. O'Connell AE, Hess JA, Santiago GA, Nolan TJ, Lok JB, Lee JJ, Abraham D. Major basic protein from eosinophils and myeloperoxidase from neutrophils are required for protective immunity to Strongyloides stercoralis in mice. Infect Immun. 2011 Jul; 79(7):2770-8. PMID: 21482685.
    Citations: 52     Fields:    Translation:AnimalsCells
  21. O'Connell AE, Redding KM, Hess JA, Lok JB, Nolan TJ, Abraham D. Soluble extract from the nematode Strongyloides stercoralis induces CXCR2 dependent/IL-17 independent neutrophil recruitment. Microbes Infect. 2011 Jun; 13(6):536-44. PMID: 21315175.
    Citations: 14     Fields:    Translation:Animals
  22. O'Connell AE, Kerepesi LA, Vandergrift GL, Herbert DR, VAN Winkle TJ, Hooper DC, Pearce EJ, Abraham D. IL-4(-/-) mice with lethal Mesocestoides corti infections--reduced Th2 cytokines and alternatively activated macrophages. Parasite Immunol. 2009 Dec; 31(12):741-9. PMID: 19891612.
    Citations: 6     Fields:    Translation:AnimalsCells
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.