Biobanks are often an integral part of medical research, helping scientists store and access needed biological samples for study. As a result, research facilities around the world invest in biorepository management tools and software to ensure the integrity of their findings, which can hopefully be translated into new therapies and treatments for different medical conditions. For one international research group, this investment, combined with diligent work, seems to have paid off: recently, the team made what could be the biggest discovery about cerebral palsy in 20 years.
Cerebral palsy is a condition that causes permanent physical disability, as well as epilepsy, communication problem,s and cognition problems in some cases. The disorder has long been thought to be due to a lack of oxygen during pregnancy or birth. However, the Australian Collaborative Cerebral Palsy Research Group, based at the University of Adelaide’s Robin Research Institute, recently found that 14% of cerebral palsy cases are likely caused by a genetic mutation instead.
According to a report published in the journal Molecular Psychiatry, a genetic component to cerebral palsy had long been suspected. However, this was believed to affect as few as 1% of patients, hardly noteworthy for a condition that occurs in about one in 400 children. Despite this belief, the researchers decided to map the DNA of cerebral palsy patients and their families.
To accomplish this, the research team worked with collaborators throughout Australia, as well as Houston, Texas. Using funding from the National Health and Medical Research Council and the Cerebral Palsy and Tenix Foundations, they were able to construct a unique biobank of DNA and clinical data focusing on the condition. While this task took 20 years to complete, they were eventually able to prove that the genetic link was far more common than previously thought.
“Biobanks do more than store genetic material. Just as a library is much more than an accumulation of physical books, for the biobank it’s also the wealth of data behind the stored material that is truly valuable. For researchers, biobanks are becoming vital repositories of information as well as material,” said Rick Michels, Vice President of Marketing for Dataworks Development, a company specializing in information management software for biobanks (Freezerworks).
Currently, the researchers are continuing their work by searching for further mutations in cerebral palsy cases, which will increase evidence of the disease’s genetic component. However, the group is hopeful that their present findings will help create significant changes in how the disorder is diagnosed, managed, and treated. Importantly, the finding could help reduce the number of civil suits filed against obstetricians, who are often blamed for the condition and pressured into performing unnecessary cesarean deliveries, and also change how people view the condition.
In light of the research teams’s findings, they have successful attracted international attention and new collaborators to help support their mission and biobanking efforts.