Amanda M. Ackermann, M.D., Ph.D.

faculty photo
Assistant Professor of Pediatrics
Department: Pediatrics

Contact information
Children's Hospital of Philadelphia
3615 Civic Center Blvd, ARC 802C
Philadelphia, PA 19104
Office: 215-590-0175
Fax: 215-590-1605
Lab: 267-425-1981
B.S. (Biology, Chemistry)
Southwestern University, 2002.
Ph.D. (Molecular Physiology and Biophysics)
Vanderbilt University, 2008.
Vanderbilt University, 2010.
M.S. (Translational Research, Entrepreneurial Science Track)
University of Pennsylvania, 2021.
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Description of Clinical Expertise

I am a Pediatric Endocrinologist who cares for patients in both the inpatient and outpatient settings. My clinical focus is on genetic and epigenetic disorders that have endocrine manifestations, primarily hypoglycemia and disorders of beta cell insulin secretion.

Description of Research Expertise

My lab studies diabetes and congenital hyperinsulinism, both of which are caused by dysregulated insulin secretion from the pancreatic beta cells. We use a combination of mouse models, cell lines, and primary human pancreas tissue to investigate the function, genetics, and epigenetics of pancreatic beta cells. Techniques include single-cell genomics, live cell functional imaging, CRISPR-Cas9 gene editing, in vivo and in vitro metabolic tests, and tissue histology.

My clinical research endeavors focus on investigating the pathophysiological mechanisms of congenital hyperinsulinism and identifying and testing novel therapies to modulate insulin secretion.

terms: diabetes, islet, beta cell, alpha cell, hyperinsulinism, hypoglycemia, genetics, epigenetics, genomics

Selected Publications

Zeiad, R.K.H.M., Ferren, E.C., Young, D.D., De Lancy, S.J., Dedousis, D., Schillaci, L., Redline, R.W., Saab, S.T., Crespo, M., Bhatti, T.R., Ackermann, A.M., Bedoyan, J.K., and Wood, J.R.: A novel homozygous missense mutation in the YARS gene: Expanding the phenotype of YARS multisystem disease. Journal of the Endocrine Society 5(2): 1-7, January 2021 Notes: doi: 10.1210/jendso/bvaa196.

Chen, J., Li, X., Edmondson, A., Ditewig, G.M., Izumi, K., Ackermann, A.M., Morava-Kozicz, E., Ficicioglu, C., Bennett, M.J., and He, M.: Increased clinical sensitivity and specificity of plasma protein N-glycan profiling for diagnosing congenital disorders of glycosylation using flow injection electrospray ionization quadrupole time-of-flight mass spectrometry. Clinical Chemistry 65(5): 653-663, May 2019 Notes: doi: 10.1373/clinchem.2018.296780.

Grand, K., Gonzalez-Gandolfi, C., Ackermann, A.M., Aljeaid, D., Bedoukian, E., Bird, L.M., De Leon, D.D., Diaz, J., Hopkin, R.J., Kadakia, S.P., Keena, B., Klein, K.O., Krantz, I., Leon, E., Lord, K., McDougall, C., Medne, L, Skraban, C.M., Stanley, C.A., Tarpinian, J., Zackai, E., Deardorff, M.A., and Kalish, J.M.: Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations. American Journal of Medical Genetics Part A 179(4): 542-551, April 2019 Notes: doi: 10.1002/ajmg.a.61062.

Ackermann, A.M., Moss, N.G., and Kaestner, K.H.: GABA and artesunate do not induce pancreatic alpha-to-beta cell trans-differentiation in vivo. Cell Metabolism 28(5): 787-792, November 2018 Notes: doi: 10.1016/j.cmet.2018.07.002.

Wong, S.Y., Gadomski, T., van Scherpenzeel, M., Honzik, T., Hansikova, H., Holmefjord, K.S.B., Mork, M., Bowling, F., Skykut-Cegielska, J., Koch, D., Hertecant, J., Preston, G., Jaeken, J., Peeters, N., Perez, S., Nguyen, D.D., Crivelly, K., Emmerzaal, T., Gibson, K.M., Raymond, K., AbuBakar, N., Foulquier, F., Poschet, G., Ackermann, A.M., He, M., Lefeber, D.J., Thiel, C., Kozicz, T., and Morava, E.: Oral D-galactose supplementation in PGM1-CDG. Genetics in Medicine 19(11): 1226-1235, November 2017 Notes: doi: 10.1038/gim.2017.41.

Ackermann, A.M. and Levine, M.A.: Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfecta. American Journal of Medical Genetics Part A 173(7): 1907-1912, July 2017 Notes: doi: 10.1002/ajmg.a.38238.

Li, C., Ackermann, A.M., Patel, P., Chen, P., Boodhansingh, K.E., Givler, S., Bhatti, T.R., Liu, C., Schug, J., Doliba, N., Matschinsky, F.M., Nissim, I., Kaestner, K.H., Naji, A., Adzick, N.S., Stanley, C.A., and De León, D.D.: Functional and metabolic evaluation of islets from infants with hyperinsulinism due to loss of function mutations of ATP-dependent potassium channels. Diabetes 66(7): 1901-1913, July 2017 Notes: doi: 10.2337/db17-0029.

van der Meulen, T., Mawla, A., DiGruccio, M.R., Adams, M.W., Nies, V., Dólleman, S., Liu, S., Ackermann, A.M., Cáceres, E., Hunter, A.E., Kaestner, K.H., Donaldson, C.J., and Huising, M.O.: Virgin beta cells persist throughout life at a neogenic niche within pancreatic islets. Cell Metabolism 25(4): 911-926, April 2017 Notes: doi: 10.1016/j.cmet.2017.03.017.

Ackermann, A.M., Zhang, J., Heller, A., Briker, A., and Kaestner, K.H.: High-fidelity Glucagon-CreER mouse line generated by CRISPR-Cas9 assisted gene targeting. Molecular Metabolism 6(3): 236-244, January 2017 Notes: doi: 10.1016/j.molmet.2017.01.003.

Wong, S.Y., Beamer, L.J., Gadomski, T., Honzik, T., Mohamed, M., Wortmann, S.B., Brocke Holmefjord, K.S., Mork, M., Bowling, F., Skykut-Cegielska, J., Koch, D., Ackermann, A., Stanley, C.A., Rymen, D., Zeharia, A., Al-Sayed, M., Marquardt, T., Jaeken, J., Lefeber, D., Conrad, D.F., Kozicz, T., and Morava, E.: Defining the phenotype and assessing severity in phosphoglucomutase-1 deficiency. The Journal of Pediatrics 175(1): 130-136, August 2016 Notes: doi: 10.1016/j.jpeds.2016.04.021.

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Last updated: 03/02/2021
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