Stem cell and animal models are vital for the investigation and understanding of diseases. The Mission Massimo Foundation supports the development of models for novel leukodystrophies to test potential therapeutic options.
 |
PROMETHEUS Onus Probandi | The Burden Of Proof Induced pluripotent stem cell (iPSC) technology provides unprecedented possibilities to model human diseases, literally in a dish. The University of Queensland – Australian Institute for Bioengineering and Nanotechnology in Brisbane, Australia has created footprint-free iPSC lines of Condition 0 from patient skin fibroblasts. Although just being used in disease modelling for now, corrected patient derived iPSCs show great promise to treat neurological diseases which have previously been considered untreatable without ethical issues and immunological rejection. |
 |
ZANZIBAR Onus Probandi | The Burden Of Proof The optical clarity of zebrafish makes them ideal to study diseases of the central nervous system particularly during early development using non-invasive imaging techniques. Fluorescent markers can also be be used to light up different cells and organs in zebrafish embryos. CRISPR/Cas9 is an exciting new technology allowing the one-step generation of zebrafish carrying multiple mutations. It dramatically cuts the cost and time required to create zebrafish models of neurodegenerative diseases like leukodystrophies. Using this technology, researchers at the University of Queensland – Institute for Molecular Bioscience in Brisbane Australia have created a Condition 0 zebrafish with Patient 0 mutations on Exon 10 and Exon 11 on the DARS gene. |
 |
MASSIMOUSE Onus Probandi | The Burden Of Proof CRISPR/Cas9 is an exciting new technology allowing the one-step generation of mice carrying multiple mutations. It dramatically cuts the cost and time required to create mouse models of neurodegenerative diseases like leukodystrophies and without background strain limitation. Using this technology, researchers at the Walter and Eliza Hall Institute of Medical Research in Melbourne Australia have created the MASSIMOUSE. It is a Condition 0 mouse with Patient 0 mutations on Exon 10 and Exon 11 on the DARS gene. |
 |
MIYAGIMOUSE Onus Probandi | The Burden Of Proof A knock-out mouse is a genetically engineered mouse in which researchers inactivate an existing gene by replacing it or disrupting it with an artificial piece of DNA. The loss of gene activity often causes changes in a mouse’s phenotype, which includes appearance, behavior and other observable physical and biochemical characteristics. Researchers at the University of New South Wales in Sydney Australia have created the MIYAGIMOUSE using knock-out embryos from the Center for Animal Resources and Development in Kumamoto, Japan. It is a Condition 0 mouse with a full heterozygous knock-out in the DARS gene. |