Dwi U. Kemaladewi, Ph.D.

  • Assistant Professor of Pediatrics

Professional Affiliations/Society Memberships  

  • American Society of Human Genetics 
  • World Muscle Society  
  • Muscular Dystrophy Association 

Major Lectureships and Seminars  

  • “CRISPR/Cas9 genome editing approaches for MDC1A,” Cure CMD Scientific and Family Conference, Washington DC, USA. May 2017. 
  • “Exon inclusion for the treatment of splice site mutation in MDC1A,” Ottawa International Conference in Neuromuscular Biology, Disease and Therapy, Ottawa, Canada. Oct 2017. 
  • “Systemic upregulation of a compensatory disease modifier ameliorates muscular dystrophy phenotypes in vivo,” Genomics of Rare Disease, Wellcome Sanger Institute, Cambridge, UK.  Mar 2018. 
  • “Exploring the frontiers of genomic medicine in muscular dystrophy,” International Mouse Phenotyping Consortium, Toronto, Canada. May 2018. 
  • “One size fits all: Transcriptional upregulation of a disease modifier gene as a mutation-independent approach in muscular dystrophy,” American Society of Human Genetics, San Diego, USA. Oct 2018. 
  • “A mutation-independent approach via transcriptional upregulation of a disease modifier gene rescues muscular dystrophy phenotype in vivo,” MDA Clinical and Scientific Conference, Orlando, USA. Apr 2019. 
  • “Interventional genomics in congenital muscular dystrophy,” International Congress on Research of Rare and Orphan Diseases RE(ACT), Toronto, Canada. May 2019.  
  • “Polyamines as protective disease modifiers in congenital muscular dystrophy,” Gordon Research Conference in Polyamines in Cancer Biology, Inflammation, Microbiome, Plants and Pathogens, Waterville Valley, USA. June 2019. 

Education & Training

  • BSc in Life Sciences, Hogeschool van Arnhem en Nijmegen, Nijmegen, the Netherlands (2003-2007) 
  • PhD in Human Genetics, Leiden University Medical Center, the Netherlands (2007-2012)  
  • Postdoctoral fellowship, The Hospital for Sick Children, Toronto, Canada (2012-2018) 

Research Interests

Dr. Kemaladewi has extensive training in human genetics and development of genetic therapy, with a focus on neuromuscular disorders. She is interested in understanding the molecular mechanisms underlying layers of pathophysiology involved in muscular dystrophies, including muscle atrophy, -regeneration, -fibrosis, and nerve damages. In parallel, the exposure to technology-driven field of human genetics has provided a strong basis on her translational research arm. She has a robust portfolio on the development and evaluation of therapeutic genetics, such as antisense oligonucleotides and CRISPR/Cas to correct mutations and modulate disease modifier genes in mouse models.