Since 2000 Leanne has specialised in identifying the genetic causes of epilepsy and other neurological disorders including autism, intellectual disability and psychiatric features. Leanne and her group study individuals and families and use a variety of genetic and genomic methodologies to identify the genetic cause. Around 70% of all epilepsy (of which are there more than 30 different syndromes) is thought to have a genetic basis. 

Her team collaborates with Clinicians from all over the world who refer patients into their genetics research projects. Strategies including genetic linkage analyses and next generation sequencing are employed.The group are establishing animal models of neurological disorders in order to understand more about the underlying biology so that we can better direct research to develop new therapies for patients.

The gene discoveries made by Leanne and her group include PCDH19 as the gene for epilepsy, female limited (previously known as EFMR), SCARB2, GOSR2 and KCNC1 in progressive myoclonus epilepsy (PME), PRRT2 as a gene for Benign Infantile Epilepsies (BIE), KCNT1 in a form of focal (partial) epilepsy with co-morbidities of intellectual disability and psychiatric features. Most recently the group discovered  DEPDC5, NPRL2 and NPRL3 as important genes in focal epilepsies, including cases with brain malformations. This has drawn attention to the importance of the mTOR pathway in epilepsy.

The group has also worked extensively on the identification and characterisation of SCN1A mutations in forms of epilepsy including Dravet Syndrome and GEFS+ which led to genetic tests becoming available for patients. All of the gene discoveries made by the group have now become available as diagnostic tests for patients.

We also have an interest in common epilepsies with complex inheritance and reported the first functionally confirmed susceptibility locus in the GABA(A) Receptor gene, GABRD. We have published studies on the role of Copy Number Variants including 15q13.3 in epilepsy and its co-morbidities and examined whether these act as genetic modifiers in forms of epilepsy.

We are interested in collaborating with Industry partners and from 2000-2006 the Epilepsy Research Group provided a platform for the development of the Adelaide based biotechnology company Bionomics Ltd.