A global effort
What if we could break down global research silos, share access to data and develop a strategy to focus future cerebral palsy research? What if all this could ultimately lead to a better understanding of the disability, finding opportunities for early detection, improved treatment and perhaps even prevention?
This year, a global consortium has come together with a big mission: to achieve just that.
The International Cerebral Palsy Genomics Consortium (ICPGC) will create an online platform and mega database, pooling and standardizing international cerebral palsy genomics research.
With 17 million people around the world living with the disability, this game-changing collaboration has the revolutionary potential for extraordinary impact.
Remarkably, the first phase of the online platform and database is anticipated to be ready by the end of 2017.
For researchers populating the database, the preliminary focus will be on the key two per cent of the genome that contains the code for proteins that make you, run you and repair you.
It is inside this initial two per cent that scientists and clinicians alike believe they will find some exciting answers.
The paradigm shift
Up until recently, genetic factors were not considered to be part of the causal pathways leading to cerebral palsy. For the longest time, cerebral palsy was thought to be the result of complications at birth.
“As a result, we witnessed a significant increase in the number of elective and emergency caesareans, up from five to 34 per cent in Australia,” said Yana Wilson, Cerebral Palsy Alliance researcher and member of the ICPGC
“But despite this rise in precautionary caesareans, we haven’t actually seen any real changes in the incidence of cerebral palsy over that time,” she said.
In fact, a number of studies looking at the clinical risk factors of cerebral palsy have shown that birth complications only account for about 10 per cent of cases.
There is compelling evidence from researchers demonstrating that up to 35 per cent of cases may have a genetic link. And it’s not one single ‘cerebral palsy’ gene, but rather hundreds of genes that may be involved.
As a result of this evidence, a paradigm shift has occurred in the thinking around what causes cerebral palsy.
DNA pathways to improve lives
“Each of us also have hundreds and thousands of variants in our DNA that lead to our uniqueness. It’s what makes me, me, and you, you,” says Yana.
“But one of the major stumbling blocks for researchers is trying to tease out the variation that may contribute to cerebral palsy. This requires really large amounts of data that no one group alone can feasibly acquire,” she said.
The development of this database will result in a dynamic clearinghouse for existing data. It will be infinitely scalable and able to integrate ongoing research efforts.
As genomics research transitions into genomic medicine, the database will enhance collaboration with clinicians as well as researchers from related fields (particularly those from other neurodevelopmental and birth defect research fields such as intellectual disability, autism spectrum disorders and epilepsy).
Yana said the hope was that this collaboration would ultimately provide a greater understanding of cerebral palsy, and lead to improved clinical guidelines, limiting the diagnostic odyssey some families experience.
“Routine genetic testing is not currently used when diagnosing cerebral palsy. But it is being used for a number of other neurodevelopmental conditions which are often also found in people who have cerebral palsy. We think these other conditions likely share a common genetic susceptibility with cerebral palsy and that routine genetic testing could be helpful,” she said.
Improved understanding of these complex causal pathways leading to cerebral palsy is paramount for counselling, surveillance, early detection and the possible development of targeted prevention and therapeutic strategies.
The ICPGC currently consists of forty researchers from several countries, and a Governance Committee that consists of six representatives:
- Michael Kruer (Chair), Clinical Neurologist, Phoenix Children’s Hospital, USA
- Andres Moreno De Luca, Resident Physician & Assistant Professor, Geissinger Health Systems, Pennsylvania, USA
- Richard Wintle, Hospital for Sick Kids and the Centre for Applied Genomics, Canada
- Changlain Zhu, Researcher, Sahlgrenska Academy, Institute of Neuroscience and Physiology, University of Gothenburg, Sweden (also representing China)
- Jozef Gecz, Australian NH&MRC Senior Principal Research Fellow and Professor of Human Genetics, University of Adelaide, Australia
- Yana Wilson, Research Officer, Cerebral Palsy Genomics, Cerebral Palsy Alliance Research Institute, The University of Sydney, Australia
The Governance Committee, with the help of Emeritus Professor Alastair MacLennan, is preparing a publication announcing the ICPGC’s formation, in an effort to encourage other cerebral palsy researchers and advocacy groups to get involved with the initiative.
For more information about this exciting initiative, contact:
- Yana Wilson, Research Officer, Cerebral Palsy Genomics
Cerebral Palsy Alliance Research Institute, The University of Sydney, Australia