From discovering the code to finding a treatment

7 Oct 2014
Massimo Damiani, Mission Massimo Foundation Inc.
Massimo Damiani, Mission Massimo Foundation Inc.

Five years ago Stephen and Sally Damiani embarked on a quest to find a diagnosis for their son Massimo who suffered from an unknown form of leukodystrophy, a condition linked to the loss of myelin, the electrical insulation around neurons.  Through the applications of gene sequencing technology genome biologist Dr Ryan Taft (then at the Institute of Molecular Biolosciences at The University of Queensland and Dr Adeline Vanderver, a paediatric neurologist from Children’s National Medical Centre in Washington DC, it was discovered that Massimo had a defect in the DARS gene. DARS is an enzyme that is involved in translating the genetic code into correctly made protein, ensuring that the amino acid Aspartate ends up at the correct position. Since the discovery that mutations in the DARS gene underlies HBSL: Hypomyelination with Brain stem & Spinal cord involvement & Leg spasticity, an increasing number of patients have been identified worldwide.  

Knowing the cause of a new disease (cracking the code) is only the first step towards finding a treatment or a cure. In order to develop and test possible treatments a team lead by Associate Professor Ernst Wolvetang, a stem cell biologist from the Australian Institute for Bioengineering and Nanotechnology (AIBN), reprogrammed skin cells from DARS patients into induced pluripotent stem cells (iPSC), stem cells that can make every cell type of the human body. Using these patient specific iPSC researchers discovered a promising way to improve the function of the defective DARS enzyme. Following testing of this novel therapeutic approach in the human stem cells and mouse models the next step will be to provide this therapy to HBSL patients with DARS mutations. 

The collaboration of multiple researchers, inspired by the dedication (and fundraising efforts) of the Damiani family, has not just allowed the progression from disease discovery to finding a potential treatment through stem cell technology, but outlines a pathway from disease discovery to novel therapeutic approaches that can be applied to a range of other leukodystrophies.  

We are grateful to Stephen and Sally Damiani, through Mission Massimo Foundation Inc., for their support of this exciting research.