Louisa C. Pyle, MD, PhD

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Louisa C. Pyle, MD, PhD, is an attending physician with the Division of Human Genetics and the Roberts Individualized Medical Genetics Center at Children's Hospital of Philadelphia.

Locations: Main Hospital

Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)

Education and Training

Medical School

MD - University of Alabama at Birmingham School of Medicine, Birmingham, AL


Pediatrics - Children’s Hospital of Philadelphia, Philadelphia, PA


Pediatrics - Children’s Hospital of Philadelphia, Philadelphia, PA
Medical Genetics and Genomics - Children’s Hospital of Philadelphia, Philadelphia, PA


T32 Research Fellow in Medical Genetics and Genomics - Children’s Hospital of Philadelphia, Philadelphia, PA

Board Certification

Pediatrics – American Board of Pediatrics

Graduate Degree

PhD in Genetics - University of Alabama at Birmingham, Birmingham, AL

Titles and Academic Titles

Attending Physician

Departments and Services




Wang Z, McGlynn KA, Rajpert-De Meyts E, Bishop DT, Chung C, Dalgaard MD, Green MH, Gupta R, Grotmol T, Haugen TB, Karlsson R, Litchfield K, Mitra N, Nielsen K, Pyle LC, Schwartz SM, Thorsson V, Vardhanabhuti S, Wiklund F, Turnbull C, Chanock SJ, Kanetsky PA, Nathanson KL, for the Testicular Cancer Consortium. Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor. Nat. Genetics. 2017; 49(7):1141-1147.


Ahrens-Nicklas RC, Pyle LC, Ficicioglu C. Morbidity and mortality among exclusively breastfed neonates with medium chain acyl-CoA dehydrogenase deficiency. Genet Med. 2016 May 5.

Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter AG, Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL, López-González V, Martinezmoles J, Meldrum C, Mirzaa GM, Morel CF, Morton JE, Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, Schönewolf-Greulich B, Shears DJ, Silver J, Smith AC, Temple IK, van de Kamp JM, van Dijk FS, Vandersteen AM, White SM, Zackai EH, Zou R, Bulman DE, Boycott KM, Lines MA. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. Hum Mutat. 2016 Feb;37(2):148-154.

Ehrhardt AE, Chung WJ, Pyle LC, Wang W, Nowotarski K, Mulvill CM, Ramjeesingh M, Hong J, Velu SE, Lewis HA, Atwell S, Bear CE, Lukacs GL, Kirk KL, Sorscher EJ. Channel gating regulation by the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) first cytosolic loop. J Biol Chem. 2016 Jan 22;291(4):1854-65.


Pyle LC, Ehrhardt A, Mitchell LH, Fan L, Ren A, Naren AP, Li Y, Clancy JP, Bolger GB, Sorscher EJ, Rowe SM. Regulatory Domain Phosphorylation to Distinguish the Mechanistic Basis Underlying Acute CFTR Modulators. Am J Physiol Lung Cell Mol Physiol. 2011 Oct;301(4):L587-97.


Rowe SM, Pyle LC, Jurkevante A, Varga K, Collawn J, Sloane P, Woodworth B, Mazur M, Fan L, Fortenberry J, Sorscher EJ, Clancy JP. ΔF508 CFTR Processing Correction and Activity in Polarized Airway and Non-Airway Cell Monolayers. Pulm Pharm & Ther. 2010 Mar 10.


Pyle LC, Fulton JC, Sloane PD, Backer K, Fortenberry J, Prasain J, Barnes S, Li Y, Fan L, Clancy JP, Rowe SM. Activation of CFTR by the Flavonoid Quercetin: Potential Use as a Biomarker of ∆F508 CFTR Rescue. Am J Respir Cell Mol Biol. 2009 Dec 30.


Sabatino DE, Wong C, Cline AP, Pyle L, Garrett LJ, Gallagher PG, Bodine DM. A minimal ankyrin promoter linked to a human gamma-globin gene demonstrates erythroid specific copy number dependent expression with minimal position or enhancer dependence in transgenic mice. J Biol Chem. 2000, 275(37):28549-54.


Orlic D, Girard LJ, Anderson SM, Pyle LC, Yoder MC, Broxmeyer HE, Bodine DM. Free Full Text Identification of human and mouse hematopoietic stem cell populations expressing high levels of mRNA encoding retrovirus receptors. Blood. 1998, ;91(9):3247-54.


Sabatino DE, Do BQ, Pyle LC, Seidel NE, Girard LJ, Spratt SK, Orlic D, Bodine DM. Amphotropic or gibbon ape leukemia virus retrovirus binding and transduction correlates with the level of receptor mRNA in human hematopoietic cell lines. Blood Cells Mol Dis. 1997, 23(3):422-33.



Pyle LC, Bhatti TR, Grand K, Bowen DK, Kolon TF, Deardorff MA. Differences of sex development secondary to transcription factor dosage dysregulation: a potential new mechanism. 38th Annual David W. Smith Workshop on Malformations and Morphogenesis, Stowe, VT, August 2017.

Pyle LC, Wubbenhorst B, Godse R, D'Andrea K, Weather B, Kanetsky P, Vaughn D, Loud J, Greene M, Nathanson KL, Stewart D. Exome Sequencing of Individuals with Testicular Germ Cell Tumor and Family History Reveals Novel Germline Variants. America College of Medical Genetics, Phoenix, AZ, March 2017.


Pyle LC, Gruccio D, Keena BA, McDougall C, Reynoso FJ, Bamba V, Zackai EH. Turner Syndrome Variant Isodicentric X with Xp Duplication: Two New Cases without Turner Syndrome Dysmorphology. 37th Annual David W. Smith Workshop on Malformations and Morphogenesis, Lake Arrowhead, LA, September 2016.

Posters and Presentations

Invited Lectures 


Pyle LC. “Genetics of Congenital Adrenal Hyperplasia” – Current Concepts in CAH Annual Meeting, Philadelphia, PA. April, 2017.

Pyle LC. “GWAS to Function in Testicular Cancer” – International Testicular Cancer Consortium Annual Meeting, Washington DC. March, 2017.

Awards and Honors

2017, Research Day Best Poster Award, CHOP
2013, Travel Award, North American Metabolic Academy
2009, Travel Award, Days of Molecular Medicine, Harvard University
2008, Best Long-term Project, Medical Student Research Day, UASOM
2006, Best Poster in Cell Biology, Medical Student Research Day, UASOM
2002, Paradigm Award for leadership and team management, Biogen Inc.
2000, First Group Scholar, Smith College
1999, Dean's Award, Sea Education Association
1996-2000, Dean's Award, Smith College
1995-2000, Daniel J. Kelly Scholar
1995-2000, Promising Future Healthcare Professional, Mount Desert Island Hospital Auxiliary

Editorial and Academic Positions

Editorial Positions

2016-present, ad hoc reviewer, American Journal of Medical Genetics
2016-present, ad hod reviewer, Pediatric Obesity

Academic and Institutional Committees

2017-present, High School Biomedical Scholars Advisory Committee

Leadership and Memberships

Memberships in Professional Organizations 


2003-present, Medical Students for Choice


2015-2018, American College of Graduate Medical Education
 - 2015-2018, Medical Genetics and Genomics Residency Review Committee
2015-present, American College of Medical Genetics
2010-present, American Association of Pediatrics