Dwi U. Kemaladewi, Ph.D.

  • Assistant Professor
  • Department of Pediatrics

Education & Training

  • BSc., Life Sciences, Hogeschool van Arnhem en Nijmegen, Netherlands, 2007
  • PhD, Human Genetics, Leiden University Medical Center, Netherlands, 2012
  • Postdoctoral Fellowship, Hospital for Sick Children/University of Toronto, Canada, 2019

Research Interest Summary

Genetic therapy in neuromuscular and neurological disorders

Research Categories

Research Interests

The Kemaladewi Laboratory aspires to streamline the translation of genetic and genomic technologies and knowledge among rare diseases with unmet therapeutic needs. We apply genome engineering technology and viral vectors to dissect pathogenetic mechanisms and develop innovative therapeutic approaches for rare pediatric neuromuscular & neurological diseases.

Current projects in the laboratory include:

1. Development of a miniaturized CRISPR activation for single virus delivery as a therapeutic modality

2. Interrogation of the role of polyamine metabolism in neurological diseases

3. Application of CRISPR activation for cellular conversion and human disease modeling

4. Implication of genetic diversity in preclinical studies involving animal models of human diseases

Representative Publications

Arockiaraj, A.I., Johnson, M., Munir, A., Prasanna, E., McAllister-Lucas, L., Lucas, P., Kemaladewi, D.U. Upregulation of human LAMA1 via CRISPR activation rescues cellular migration defects in LAMA2-deficient congenital muscular dystrophy. 2023.

Akinyele, O., Munir, A., Johnson, M., Perez, M., Gao, Y., Foley, J.R., Wu, Y., Murray-Stewart, T., Casero, R., Bayir, H., Kemaladewi, D.U. Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a novel mouse model of Snyder-Robinson Syndrome. 2023. https://www.biorxiv.org/content/10.1101/2023.01.15.524155v3

Smeets, H.J.M, Verbrugge, B., Springuel, P., Voermans, NC., Cossu, G., de Coo, R., Diamantidis, C., Dragendorf, E., Durbeej-Hjalt, M., Dziewczapolski, G., Erasmus, C., Foley, R., Girgenrath S., Herrero, L.Z., Kemaladewi, D.U., Klein, A., Lemmens, M.J., van den Loo, L., Previtali, S., Ruegg, M., Said, A.A., Sampaolesi, M., Sarkozy, A., Sawnani, H., Stelwagen, D.J., Stelwagen, H., Topaloglu, H., van Tienen, F., Yurchenco, P., van Zutphen, T. Merosin deficient congenital muscular dystrophy type 1A: An international workshop on the road to therapy. Neuromuscular Disorder. 21(7):673-680. 2021.

Kemaladewi, D. U.*, Bassi, P. S.*, Erwood, S., Al-Basha, D., Gawlik, K.I., Lindsay, K., Hyatt, E., Kember, R., Place, K. M., Marks, R., Durbeej-Hjalt, M., Prescott, S., Ivakine, E. A., Cohn, R. D. A mutation-independent approach for muscular dystrophy via upregulation of a modifier gene. Nature. 572(7767):125-130. 2019. * Both authors contribute equally

Kemaladewi, D. U.**, Cohn, R.D. Development of therapeutic genome engineering in Congenital muscular dystrophy (Review). Emerging Topics in Life Sciences 3:1. 2019.

Gonorazky, H. D., Naumenko, S., Ramani, A.K., Nelakuditi, V., Mashouri, P., Wang, P., Kao, D., Ohri, K., Viththiyapaskaran, S., Tarnopolsky, M. A., Mathews, K. D., Moore, S. A., Osorio, A. N., Villanova, D., Kemaladewi, D. U., Cohn, R. D., Brudno, M., Dowling, J. J. Expanding the boundaries of RNA sequencing as a diagnostic tool for rare mendelian disease. American Journal of Human Genetics. 104:3. 2019.

Kemaladewi, D. U., Benjamin, J., Hyatt, E., Ivakine, E. A., Cohn, R. D. Increased polyamines as protective disease modifiers in Congenital Muscular Dystrophy. Human Molecular Genetics 27:11. 2018.

Kemaladewi, D. U., Maino, E., Hyatt, E., Hou, H., Ding, M., Place, K., Zhu, X., Bassi, P., Baghestani, Z., Deshwar, A.G., Merico, D., Xiong, H.Y., Frey, B.J., Wilson, M. D., Ivakine, E. A., Cohn, R. D.  Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism. Nature Medicine 23:8. 2017.

Wojtal, D.*, Kemaladewi, D. U.*, Malam, Z., Abdullah, S., Wong, T. W. Y., Hyatt, E., Baghestani, Z., Pereira, S., Stavropoulos, J., Mouly, V., Mamchaoui, K., Muntoni, F., Voit, T., Gonorazky, H., Dowling, J. J., Wilson, M. D., Mendoza-Londono, R., Ivakine, E. A., Cohn, R. D. Spell-Checking Nature: Versatility of CRISPR/Cas9 for the Development of Treatments for Inherited Disorders. American Journal of Human Genetic; 98:1. 2016. * Both authors contribute equally 

Kemaladewi, D. U., Cohn, R. D. Exon Snipping in Duchenne Muscular Dystrophy (Review).Trends in Molecular Medicine 22:3. 2016.

Full List of Publications