Funding to help find causes of genetic disorders in children

blackboard with children's health written on itUnderstanding the genetics of childhood diseases with Next Generation Sequencing is one of eight UniSA research projects to be funded by the Channel Seven Children’s Research Foundation in 2016.

UniSA’s Associate Professor Leanne Dibbens is a geneticist and molecular biologist who focuses on identifying the genetic causes of epilepsy and other neurological disorders that affect children.

“Epilepsy is such a common neurological order and finding the cause can help patients and families gain more understanding about the disease and it helps us to design better treatments for it,” she says.

“Building on our successes in identifying the genetic causes of epilepsy, we now want to identify the causes of other serious genetic disorders in children.”

Assoc Prof Dibbens will receive $70,000 from the Foundation for her project titled Understanding the genetics of childhood diseases with Next Generation Sequencing which will help understand the causes of some genetic disorders that affect children.

The study will use Next Generation Sequencing, a method that allows researchers to sequence essentially the entire genomic DNA of a person, to help identify the causes of disorders.

“Next Generation Sequencing allows us to make genetic discoveries on a whole new scale and find the causes of disease in patients that previously we were unable to solve,” Assoc Prof Dibbens says.

“Our research is important because we identify new genes involved in childhood diseases. Our aim is to give a better quality of life to children affected by genetic disorders.”

Assoc Prof Dibbens also received funding to explore the role of DEPDC5 mutations in childhood brain abnormalities.

Other projects funded for 2016 are:

Allison Cowin – reducing inflammation to improve burn injury repair

Michele Grimbaldeston – novel approaches to control cell mast function

Sarah Heron – understanding the contribution of parental mosaicism to the causes of childhood genetic epilepsies

Shudong Wang – new treatment for childhood leukaemia

Sophie Wiszniak – investigating causes of congenital heart disease

Cory Xian – preventing childhood chemotherapy-induced bone loss.

The Channel Seven Children’s Research Foundation funds grants for research into conditions that affect the health, education and welfare of children.

Media contact: Kelly Stone office 8302 0963 mobile 0417 861 832 email Kelly.stone@unisa.edu.au

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