Gene discovery in cerebral palsy study
- Project status: Active
Research area: Clinical Sciences > Neurodisability and Rehabilitation
Discovering new genes to better understand cerebral palsy (CP)
Although cerebral palsy (CP) has several causes, no cause is known for over 10% of individuals. It is possible that there is a genetic contribution that we don’t yet understand.
As members of the ICPGC – International Cerebral Palsy Genomics Consortium, we collaborate to investigate genetic associations with CP.
Although cerebral palsy (CP) has several causes, no cause is known for over 10% of individuals. It is possible that there is a genetic contribution that we don’t yet understand.
As members of the ICPGC – International Cerebral Palsy Genomics...
Although cerebral palsy (CP) has several causes, no cause is known for over 10% of individuals. It is possible that there is a genetic contribution that we don’t yet understand.
As members of the ICPGC – International Cerebral Palsy Genomics Consortium, we collaborate to investigate genetic associations with CP.
Our goals
We aim to discover new genes that may be associated with CP. We collect DNA samples from individuals with CP where there is no known cause to determine how often specific genetic changes are found and whether it is possible to discover new genes. This information will help families understand their child’s CP, provide new insights into how some forms of CP occur, and work towards a personalised medicine approach to care.
Other work
We also contribute to a study of genomics testing pathways for precision health in CP. The aim is to understand the fraction of children with CP who would benefit from genetic testing early in life and how useful it is within clinical practice. This study is led by Professor Jozef Gecz at The University of Adelaide, locally by Professor David Amor and Dr. Monica Cooper
Our research team
This study is led by MCRI Professor David Amor and Professor Michael Kruer from the University of Arizona.
Key publications
- Kayumi S, Pérez-Jurado LA, Palomares M, et al. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. Genet Med (2022) 24(11): 2351-66. doi: 10.1016/j.gim.2022.08.006.
- Jin SC, Lewis SA, Bakhtiari S, et al. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nat Genet (2020) 52(10):1046-1056. doi: 10.1038/s41588-020-0695-1.
Funding
This work is funded by the Medical Research Futures Fund Genomic Health Futures Mission stream (MRFF GHFM).
Contact us
These studies are recruiting by referral only. If you are interested in learning more, please contact us directly.
Dr. Kylie Crompton
Email:
show email address
Phone:
show phone number
Cerebral Palsy newsroom
Automated infant movement scoring: from smartphones to screening
CP-Pathfinding: Fitness for Life
NHMRC Ideas Grants to advance childhood treatments and diagnoses
Pain education for children with cerebral palsy (CP)
Tackling cerebral palsy with a strong spirit
AI technology helps identify cerebral palsy in babies
Orthopaedics Research
Grant to improve mental health outcomes for children with neurodevelopmental disorders
Screen cCMV project
Neurodevelopment Flagship
CP-Achieve – CRE in Cerebral Palsy — 2020–2025 (archived)
New project to improve health and well-being of young people with cerebral palsy
Share //
