Dr. Loomes’ primary research interest is in the genetics of liver and bile duct development. Following the identification of Jag1 as the disease gene for Alagille syndrome, a multisystem developmental disorder with bile duct paucity as a major feature, the Notch signaling pathway has been implicated in bile duct development.
In order to understand the roles of the members of this pathway in bile duct development, Dr. Loomes and her laboratory members have taken a dual approach. They utilize multiple mouse mutant models within the Notch signaling pathway to elucidate genetic interactions and to study bile duct development in detail.
In addition, they have generated a bipotential mouse hepatoblast cell line, capable of differentiation into hepatocytes or biliary epithelial cells. Through the manipulation of expression of regulatory genes in this in vitro system, they will be able to shed light on signaling mechanisms for bile duct differentiation.
- Education and Training
MD - University of Texas Southwestern Medical School, Dallas, TX
Pediatrics - Johns Hopkins Hospital, Baltimore, MD
Gastroenterology, Hepatology and Nutrition (clinical and research) - The Children's Hospital of Philadelphia, Philadelphia, PA
Pediatric GastroenterologyPediatric Transplant HepatologyPediatrics
- Titles and Academic Titles
Director of Research Training, Gastroenterology and Hepatology Fellowship Training Program
Associate Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania
- Departments and Services
- Research Interests
Pediatric liver disease
Pediatric acute liver failure
Zorc JJ, Alpern ER, Brown LW, Loomes KM, Marino BS, Mollen CJ, et al., editors. Clinical handbook of pediatrics. Philadelphia: Lippincott Williams & Wilkins; 2009.
Schwartz MW, Bell LM, Bingham PM, Chunk EK, Friedman DF, Loomes KM, et al., editors. The 5-minute pediatric consult. Philadelphia: Lippincott Williams & Wilkins; 2008.
Emerick KM and Loomes KM: Pediatric Cholestatic Liver Disease with Genetic Etiology. Pediatric Gastrointestinal and Liver Disease, 4th Ed. Wyllie R, Hyams JS and Kay M (eds.). Philadelphia: Elsevier Mosby Saunders, 2011 Notes: In press.
Kamath BM, Loomes KM, Piccoli DA: JAGGED1/NOTCH2 Sequence in Alagille Syndrome. Fibrocystic Diseases of the Liver. Murray K and Larson AM (eds.). 2011 Notes: In press.
Leung D, Chung C, Loomes KM, Mamula P. Leung D, Chung C, Loomes KM, Mamula P: A Two-Year Old Boy with Diarrhea, Failure to thrive, and Hepatomegaly Medscape J Med, 2011 Notes: In press.
Kamath BM, Loomes KM, Piccoli DA. JAGGED1/NOTCH2 sequence in Alagille syndrome. In: Murray K, Larson AM, editors. Fibrocystic diseases of the liver. New York: Springer-Verlag; 2010.
Ryan MJ, Loomes KM. Congenital hepatic fibrosis. In: Liacouras CA, Piccoli DA, editors. Pediatric gastroenterology: the requisites. Philadelphia: Mosby Elsevier; 2008. p. 253-60.
Franciosi J, Loomes KM. Wilson disease. In: Liacouras CA, Piccoli DA, editors. Pediatric gastroenterology: the requisites. Philadelphia: Mosby Elsevier; 2008. p. 298-304.
Loomes KM. Biliary Atresia. In: Schwartz MW, Bell LM, Bingham PM, Chunk EK, Friedman DF, Loomes KM, et al., editors. The 5-minute pediatric consult. Philadelphia: Lippincott, Williams and Wilkins; 2008. p 104-5.
Loomes KM. Biliary Jaundice. In: Schwartz MW, Bell LM, Bingham PM, Chunk EK, Friedman DF, Loomes KM, et al., editors. The 5-minute pediatric consult. Philadelphia: Lippincott, Williams and Wilkins; 2008. p. 472-3.
Russo P, Loomes KM. Diseases of the intrahepatic biliary tree: paucity of the intrahepatic bile ducts. In: Russo L, Rucchelli E, Piccoli DA, editors. Pathology of pediatric gastrointestinal and liver disease. 2004. p. 220-36.
Loomes KM, Kusumi K, Spinner NB. Notch genes. In: Wiley Encyclopedia of Molecular Medicine. 2002. p. 2287-90.
Kamath BM, Hutchinson A, Bauer R, Gerfen J, Krantz ID, Piccoli DA, et al. NOTCH2 mutations in Alagille syndrome [abstract oral presentation]. International Liver Congress; 2011 Mar 31; Berlin, Germany.
Leonis Mike A, Alonso Estella M, Im Kelly, Belle Steven H, Squires Robert H: Chronic acetaminophen exposure in pediatric acute liver failure. Pediatrics 131(3): e740-6, Mar 2013.
Leonard Laura D, Chao Grace, Baker Alastair, Loomes Kathleen, Spinner Nancy B: Clinical utility gene card for: Alagille Syndrome (ALGS). European journal of human genetics : EJHG Jul 2013.
Tsai Ellen A, Grochowski Christopher M, Loomes Kathleen M, Bessho Kazuhiko, Hakonarson Hakon, Bezerra Jorge A, Russo Pierre A, Haber Barbara A, Spinner Nancy B, Devoto Marcella: Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia. Human genetics Oct 2013.
Kamath Binita M, Podkameni Gisele, Hutchinson Anne L, Leonard Laura D, Gerfen Jennifer, Krantz Ian D, Piccoli David A, Spinner Nancy B, Loomes Kathleen M, Meyers Kevin: Renal anomalies in Alagille syndrome: a disease-defining feature. American journal of medical genetics. Part A 158A(1): 85-9, Jan 2012.
Kamath Binita Maya, Bauer Robert C, Loomes Kathleen M, Chao Grace, Gerfen Jennifer, Hutchinson Anne, Hardikar Winita, Hirschfield Gideon, Jara Paloma, Krantz Ian D, Lapunzina Pablo, Leonard Laura, Ling Simon, Ng Vicky Lee, Hoang Phuc Le, Piccoli David A, Spinner Nancy Bettina: NOTCH2 mutations in Alagille syndrome. Journal of medical genetics 49(2): 138-44, Feb 2012.
Humphreys Ryan, Zheng Wei, Prince Lawrence S, Qu Xianghu, Brown Christopher, Loomes Kathleen, Huppert Stacey S, Baldwin Scott, Goudy Steven: Cranial neural crest ablation of Jagged1 recapitulates the craniofacial phenotype of Alagille syndrome patients. Human molecular genetics 21(6): 1374-83, Mar 2012.
Lin Henry C, Le Hoang Phuc, Hutchinson Anne, Chao Grace, Gerfen Jennifer, Loomes Kathleen M, Krantz Ian, Kamath Binita M, Spinner Nancy B: Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features. American journal of medical genetics. Part A 158A(5): 1005-13, May 2012.
Clark Dinah M, Sherer Ilana, Deardorff Matthew A, Byrne Janice L B, Loomes Kathleen M, Nowaczyk Malgorzata J M, Jackson Laird G, Krantz Ian D: Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies. American journal of medical genetics. Part A 158A(8): 1848-56, Aug 2012.
Schrier Samantha A, Sherer Ilana, Deardorff Matthew A, Clark Dinah, Audette Lynn, Gillis Lynette, Kline Antonie D, Ernst Linda, Loomes Kathleen, Krantz Ian D, Jackson Laird G: Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature. American journal of medical genetics. Part A 155A(12): 3007-24, Dec 2011.
Bales CB, Kamath BM, Munoz PS, Nguyen A, Piccoli DA, Spinner NB, et al. Pathologic lower extremity fractures in children with Alagille syndrome. J Pediatr Gastroenterol Nutr. 2010 Jul;51(1):66-70. Cited in PubMed; PMID 20453673. Read the abstract
Kamath BM, Loomes KM, Piccoli DA. Medical management of Alagille syndrome. J Pediatr Gastroenterol Nutr. 2010 Jun;50(6):580-6. Cited in PubMed; PMID 20479679. Read the abstract
Bauer RC, Laney AO, Smith R, Gerfen J, Morrissette JJ, Woyciechowski S, et al. Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. Hum Mutat. 2010 May;31(5):594-601. Cited in PubMed; PMID 20437614. Read the abstract »
Colletti RB, Baldassano RN, Milov DE, Margolis PA, Bousvaros A, Crandall WV, et al. Variation in care in pediatric Crohn disease. J Pediatr Gastroenterol Nutr. 2009 Sep;49(3):297-303. Cited in PubMed; PMID 19590456. Read the abstract
High FA, Jain R, Stoller JZ, Antonucci NB, Lu MM, Loomes KM, et al. Murine Jagged1/Notch signaling in the second heart field orchestrates Fgf8 expression and tissue-tissue interactions during outflow tract development. J Clin Invest. 2009 Jul;119(7):1986-96. doi: 10.1172/JCI38922. Epub 2009 Jun 8. Cited in PubMed; PMCID: PMC2701882. Read the article
Golson ML, Le Lay J, Gao N, Brämswig N, Loomes KM, Oakey R, et al. Jagged1 is a competitive inhibitor of Notch signaling in the embryonic pancreas. Mech Dev. 2009 Aug-Sep;126(8-9):687-99. Epub 2009 Jun 6. Cited in PubMed; PMCID: PMC2728177. Read the article
Golson ML, Loomes KM, Oakey R, Kaestner KH. Ductal malformation and pancreatitis in mice caused by conditional Jag1 deletion. Gastroenterology. 2009 May;136(5):1761-71.e1. Epub 2009 Jan 23. Cited in PubMed; PMID 19208348. Read the abstract
Aitken JF, Loomes KM, Scott DW, Reddy S, Phillips AR, Prijic G, et al. Tetracycline treatment retards the onset and slows the progression of diabetes in human amylin/islet amyloid polypeptide transgenic mice. Diabetes. 2010 Jan;59(1):161-71. Epub 2009 Sep 30. Read the article
Posters and Presentations
Loomes KM. Academic careers in pediatrics [roundtable discussion]. Hopitaux Universitaires de Geneve, 2011 Mar; Geneva, Switzerland.
Loomes KM. Alagille syndrome: bench to bedside [presentation]. Grand Rounds, Department of Pediatrics, Hopitaux Universitaires de Geneve, 2011 Mar; Geneva, Switzerland.
Loomes KM. The role of Jag1 in bile duct development and remodeling [presentation]. Department of Pediatrics Research Seminar, Monroe Carell Jr. Children's Hospital at Vanderbilt; 2011 Feb; Nashville, TN.
Loomes KM. Neonatal cholestasis [presentation]. American Austrian Foundation, Course in Pediatric Gastroenterology; 2010 Oct; Salzburg, Austria.
Loomes KM. Viral and autoimmune hepatitis [presentation]. American Austrian Foundation, Course in Pediatric Gastroenterology; 2010 Oct; Salzburg, Austria.
Loomes KM. Metabolic liver disease [presentation]. American Austrian Foundation, Course in Pediatric Gastroenterology; 2010 Oct; Salzburg, Austria.
Loomes KM. Liver failure [presentation]. American Austrian Foundation, Course in Pediatric Gastroenterology; 2010 Oct; Salzburg, Austria.
- Awards and Honors
2012-2013, Pediatric Residency Faculty Honor Roll, The Children's Hospital of Philadelphia
2012, Master Clinician Award, The Children's Hospital of Philadelphia
2003, Researcher of the Year, American Liver Foundation, Delaware Valley Chapter
1999, Philadelphia Gastroenterological Research Forum, 37th Annual Komarov Prize Competition-3rd Prize
1997, Fellows' Teacher of the Year Award, The Children's Hospital of Philadelphia
1992, Alpha Omega Alpha, University of Texas Southwestern Medical School
1988, Phi Beta Kappa, Rice University, Houston, TX
- Editorial and Academic Positions
2009-present, Ad Hoc reviewer, PLOS Genetics
2008-2009, Co-editor, Cases in Pediatric Gastroenterology, The Medscape Journal of Medicine
2008-present, Ad Hoc reviewer, Journal of Pediatrics
2007-present, Ad hoc Reviewer, Hepatology
2007-present, Associate Editor, Pediatric Gastroenterology, Clinical Handbook of Pediatrics
2006-present, Associate Editor, Pediatric Gastroenterology, 5-minute Pediatric Consult Textbook
2006-present, Ad Hoc Reviewer, Gastroenterology
2004-present, Ad Hoc Reviewer, Journal of Pathology
2003-present, Ad Hoc Reviewer, Human Molecular Genetics
Hospital committee memberships
2012-present, Clinical Competency Committee
2008-present, Institutional Animal Care and Use Committee
2006-present, Graduate Medical Education Committee
1999-present, Therapeutic Standards Committee
Memberships in professional organizations
American Association for the Study of Liver Disease
- 2007-present, Pediatric Interest Group Steering Committee
- 2008-present, Chair, Hepatology Training Working Group
American Gastroenterological Association
- 2009-present, Growth, Development and Aging Section Nominating Committee
Crohn's and Colitis Foundation of America
North American Society for Pediatric Gastroenterology and Nutrition
Society for Developmental Biology
- Awards and Honors