Carolina M. Montaño, MD, PhD, FACMG
Areas of expertise: Integrating telomere-to-telomere (T2T) genome assemblies with epigenomic profiling and clinical phenotyping to identify novel pathogenic structural variation
Locations: Main Building, Buerger Center for Advanced Pediatric Care
About Carolina M. Montaño, MD, PhD, FACMG
Carolina Montaño, MD, PhD, FACMG, is a clinical and laboratory geneticist and an Attending Physician in the Division of Human Genetics at the Children’s Hospital of Philadelphia (CHOP). After completing her MD/PhD at the Johns Hopkins University School of Medicine, she trained in pediatrics at the Boston Combined Residency Program (Boston Children’s Hospital and Boston Medical Center). She went on to complete a Clinical Genetics and Genomics residency and a Laboratory Genetics and Genomics (LGG) fellowship at the National Human Genome Research Institute (NHGRI) at the NIH, where she served as Chief Fellow. Her research focuses on rare and undiagnosed conditions, using long-read sequencing technologies to generate genomic and epigenomic insights that can help improve diagnostic accuracy and reveal disease mechanisms.
Titles
Attending Physician
TL1 Fellow, Clinical and Translational Research Award (CTSA), Institute for Translational Medicine and Therapeutics, Perelman School of Medicine, University of Pennsylvania
Certifications
Pediatrics – American Board of Pediatrics
Diplomate – American Board of Medical Genetics and Genomics (DABMG)
Awards and Honors
2025, Institute for Translational Medicine and Therapeutics (ITMAT) Scholarship for the Master of Science in Translational Science (MSTR), Perelman School of Medicine at the University of Pennsylvania
2020, Victor Tesoriero & Monica Oglesby Neighborhood Health Center House Officer Award for excellence in community pediatrics
2018, New Century Scholar Award for minority pediatric residents interested in careers in academic pediatrics
2017, Helen and Harold Harrison Award for outstanding proficiency in Pediatrics
Leadership and Memberships
2022-present, Society for Inherited Metabolic Disorders
2020-present, American College of Medical Genetics and Genomics
- 2022-present, Member, Diversity, Equity, and Inclusion Committee
2020-present, American Society of Human Genetics
2019-present, Academic Pediatric Association
2017-present, American Academy of Pediatrics
Editorial and Academic Positions
Editorial Positions
GeneReviews, Consulting Editor
American College of Medical Genetics (ACMG), Social media editor
Academic and Institutional Committees
2024-present, Alliance of Minority Physicians
Education & training
Graduate Degree
PhD in Human Genetics - The Johns Hopkins University School of Medicine, Baltimore, MD
Medical Degree
MD, Medical Scientist Training Program (MSTP) - The Johns Hopkins University School of Medicine, Baltimore, MD
Internship
Pediatrics, The Boston Combined Residency Program - Boston Children’s Hospital and Boston Medical Center, Boston, MA
Residency
Pediatrics, The Boston Combined Residency Program - Boston Children’s Hospital and Boston Medical Center, Boston, MA
Medical Genetics and Genomics - National Human Genome Research Institute/NIH, Bethesda, MD
Fellowship
Laboratory Fellow in Genetics and Genomics (LGG) - National Human Genome Research Institute/NIH, Bethesda, MD (Chief Fellow)
T32 Fellow, Division of Human Genetics - Children’s Hospital of Philadelphia, Philadelphia, PA
TL1 Fellow, Clinical and Translational Research Award (CTSA) - Institute for Translational Medicine and Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
Publications
Publications
2025
Montano C, Timp W. Evolution of genome-wide methylation profiling technologies. Genome Res. 2025 Apr 14;35(4):572-582. doi: 10.1101/gr.278407.123. PMID: 40228903.
2023
Yeom, S.; Cohen, B.; Weiss, C.R.; Montano, C.; Wohler, E.; Sobreira, N.; Hammill, A.M.; Comi, A. Genetic testing in the evaluation of individuals with clinical diagnosis of atypical Sturge-Weber syndrome. Am J Med Genet A. 2023 Apr;191(4):983-994. doi: 10.1002/ajmg.a.63106. Epub 2023 Jan 29. PMID: 36710374.
2022
Montano, C.; Cassini, T.; Ziegler, S.G.; Boehm, M.; Nicoli, E.R.; Mindell, J.A.; Soldatos, A.G.; Manoli, I.; Wolfe, L.; Macnamara, E.F.; Malicdan, M.C.V.; Adams, D.R.; Tifft, C.J.; Toro, C.; Gahl, W.A. Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program. J Inherit Metab Dis. 2022 Apr 30. doi: 10.1002/jimd.12506. Epub ahead of print. PMID: 35490291.
Chan, R.F; Shabalin, A.A; Montano, C.; Hannon, E.; Hultman, C.M.; Fallin, M.D.; Feinberg, A.P.; Mill, J.; van den Oord, E. JCG.; Aberg, K.A. Independent methylome-wide association studies of schizophrenia detect consistent case-control differences. Schizophr Bull 2020, 46(2): 319-327.
2016
Gomez-Cabrero, D.; Almgren, M.; Sjoholm, L.K.; Hensvold, A.H.; Ringh, M.V.; Tryggvadottir, R.; Kere, J.; Scheynius, A.; Acevedo, N.; Reinius, L.; Taub, M.A.; Montano, C.; et al. High-specificity bioinformatics framework for epigenetic profiling of discordant twins reveals specific and shared markers for ACPA and ACPA-positive rheumatoid arthritis. Genome Med 2016, 1, 124.
Montano, C..; Taub, M.; Jaffe, A.; Briem, E.; Feinberg, J.I.; Tryggvadottir, R.; Idrizi, A.; Runarsson, A.; Berndsen, B.; Gur, R.; et al. Association of DNA Methylation Differences With Schizophrenia in an Epigenome- Wide Association Study. JAMA Psychiatry 2016, 5, 506-14.
2013
Montano, C.M.; Irizarry, R.A.; Kaufmann,W.E.; Talbot, K.; Gur, R.E.; Feinberg, A.P.; Taub, M.A. Measuring cell-type specific differential methylation in human brain tissue. Genome Biology 2013, 8, R94.
2012
Lee, H.; Jaffe, A.E.; Feinberg, J.I.; Tryggvadottir, R.; Brown, S.; Montano, C.; Aryee, M.J.; Irizarry, R.A.; Herbstman, J.; Witter, F.R.; Goldman, L.R.;Feinberg, A.P.; Fallin, M.D. DNA methylation shows genome-wide association of NFIX, RAPGEF2, and MSRB3 with gestational age at birth. International Journal of Epidemiology 2012, 1, 188-99.
2009
Irizarry, R.A.; Ladd-Acosta, C.; Wen, B.; Wu, Z. Montano, C.; Onyango, P.; Cui, H.; Gabo, K.; Rongione, M.; Webster, M.; Ji, H.; Potash, J.B.; Sabunciyan, S.; Feinberg, A.P .The human colon cancer methylome shows similar hypo- and hypermethylation at conserved tissue-specific CpG island shores. Nature Genetics 2009, 2, 178- 86.
2008
Seegmiller, R.E.; Bomsta, B.D.; Bridgewater, L.C.; Niederhauser C.M.; Montano, C.;Sudweeks, S.; Eyre, D.R.; Fernandes, R.J. The heterozygous disproportionate micromelia (dmm) mouse: morphological changes in fetal cartilage precede postnatal dwarfism and compared with lethal homozygotes can explain the mild phenotype. Journal of Histochemistry and Cytochemistry 2008, 11, 1003-11.
2007
Kruhlak, M.; Crouch, E.E*; Orlov, M.*; Montano, C.*; Gorsky, S.; Nussenzweig, A.; Misteli, T.; Phair, R. D.; Casellas, R. The ATM repair pathway inhibits RNA polymerase I transcription in response to chromosome breaks. Nature 2007, 447, 730-4. *These authors contributed equally to this work
Crouch, E.E.; Li, Z.; Takizawa, M.; Fichtner-Feigl, S.; Gourzi, P.; Montano, C.; Reigenbaum, L.; Wilson, P.; Janz, S.; Papavasiliou. F.N.; Casellas, R. Regulation of AID expression in the immune response. The Journal of Experimental Medicine 2007, 204, 1145-56.
2005
Holasek, S.S.; Wengenack, T.M.; Kandimalla, K.K., Montano, C.M.; Gregor, D.M.; Curran, G.L.; Poduslo, J.F. Activation of the stress-activated MAP kinase, p38, but not JNK in cortical motor neurons during early presymptomatic stages of amyotrophic lateral sclerosis in transgenic mice. Brain Research 2005, 1045, 185-98.
2004
Wengenack, T.M.; Holasek, S.S.; Montano, C.M.; Gregor, D.; Curran, G.L.; Poduslo, J.F. Activation of programmed cell death markers in ventral horn motor neurons during early presymptomatic stages of amyotrophic lateral sclerosis in a transgenic mouse model. Brain Research 2004, 1027, 73-86.
Abstracts (includes Posters and Scientific Presentations)
2024
Montano, C,; et al. Using long-read sequencing for genomic and epigenomic analysis in patient-derived samples with somatic IDH1 mosaicism. AGBT General Meeting, Orlando, FL, February 2024
2023
Montano, C.; et al. Natural history and molecular characterization of patients with Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric aciduria (MC-HGA). Annual Meeting American Society of Human Genetics ASHG, Washington, DC, November 2023
2022
Montano, C.; Sobreira; N. Atypical Molecular Findings in Patients with Capillary Malformations. Annual Meeting American Society of Human Genetics ASHG, Los Angeles, CA, October 2022.
Lectures by Invitation
2024
Montano, C. “Using long-read sequencing for genomic and epigenomic analysis in patients with Ollier disease and Maffucci syndrome.” The Jackson Laboratory Long-Read Sequencing workshop, Farmington, CT. May 2024.
Montano, C. “From arrays to nanopores: Epigenomic Profiling in Rare Disease Diagnostics.” Baylor College of Medicine Genetics Grand Rounds, Houston, TX. Apr 2024.
2022
Montano, C. Interesting cases from the Johns Hopkins Epigenetics and Chromatin Clinic: Using Epigenetic/DNA methylation profiling for diagnosis.” Baltimore-Washington Genetics Group (BWGG) at Greater Baltimore Medical Center (GBMC). Sept 2022.
Montano, C. “Clinical Genomics Careers at NHGRI.” 2022 NHGRI Short Course in Genomics, Bethesda, MD. Aug 2022.
Montano, C. “Atypical Molecular Findings in Patients with Capillary Malformations.” 43rd Annual David W. Smith Workshop on Malformations and Morphogenesis, Norfolk, VA. Aug 2022.