Leanne is a geneticist and molecular biologist interested in the effects of genetic variation on human health. She is an NHMRC Senior Research Fellow who leads the Epilepsy Genetics Research Group and is Head of Genetics at the Australian Centre for Precision Health.
Leanne studied a Bachelor of Science Degree Hons (1st Class) at the University of Adelaide and gained her PhD in 1998 from the Departments of Biochemistry and Genetics at the University of Adelaide. Her doctoral studies with Prof Robert Saint focused on identifying a Drosophila melanogaster gene, pebble (pbl) important in cell division. Leanne trained in genetics, genomics, gene discovery, biochemistry, cell cycle regulation, molecular... Read more
About me
Leanne is a geneticist and molecular biologist interested in the effects of genetic variation on human health. She is an NHMRC Senior Research Fellow who leads the Epilepsy Genetics Research Group and is Head of Genetics at the Australian Centre for Precision Health.
Leanne studied a Bachelor of Science Degree Hons (1st Class) at the University of Adelaide and gained her PhD in 1998 from the Departments of Biochemistry and Genetics at the University of Adelaide. Her doctoral studies with Prof Robert Saint focused on identifying a Drosophila melanogaster gene, pebble (pbl) important in cell division. Leanne trained in genetics, genomics, gene discovery, biochemistry, cell cycle regulation, molecular biology and developmental biology.
In 2000 Leanne joined the team of Prof John Mulley and Prof Grant Sutherland in the Department of Genetic Medicine at the Women's and Children's Hospital, Adelaide. From 2001-2008 Leanne led the Disease Genomics Research Group situated at Bionomics Ltd. Leanne has headed the Epilepsy Research Group since 2009 and her group employ the latest genomic technologies to study individuals and families with neurological disorders in order to find the genetic causes. In 2011 Leanne and her team joined the University of South Australia and in 2018 she was appointed Head of Genetics at the Australian Centre for Precision Health. Leanne's research has led to the identification of >30 genes in epilepsy and other neurological disorders. Her group is interested in the pathobiological mechanisms caused by mutations in these genes and how understanding this biology can be used to discover new diagnostics and treatments for people with these disorders.
About me
Human Genetics Society of Australasia (HGSA),American Epilepsy Society (AES),American Society of Human Genetics (ASHG),International Child Neurology Association (ICNA)
About me
Doctor of Philosophy The University of Adelaide
Bachelor of Science (Honours) The University of Adelaide
Bachelor of Science The University of Adelaide
Professor of Human Genetics UniSA 2018-Present
NHMRC Senior Research Fellow 2016-2020
Associate Research Professor UniSA 2011-2017
NHMRC Career Development Fellow 2012-2015
Head Epilepsy Research Program Adelaide 2009-Present
Team Leader Disease Genomics Bionomics Ltd 2000–2007
Senior Scientist Epilepsy Research Program Womens and Childrens Hospital Adelaide 2000-2011
MS McLeod Research Fellow 2009-2011
Postdoctoral Fellow Hanson Institute for Cancer Research 1997-1999
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... Read more
Research
Excludes commercial-in-confidence projects.
Establishment of a Neuro-vascular Biobank to study the pathogenetic basis of surgical neurovascular disease and support the development of targeted treatments , Neurosurgical Research Foundation, 30/08/2021 - 31/12/2024
The identification of new epilepsy genes by whole genome sequencing, NHMRC - Project Grant, 01/01/2017 - 31/12/2022
Identifying the Genetic Causes of Epilepsy, NHMRC - Research Fellowship, 01/01/2016 - 31/12/2022
Identifying new genetic causes of neuromuscular disorders, Muscular Dystrophy South Australia, 11/10/2016 - 30/06/2018
Exploring the role of DEPDC5 mutations in childhood brain abnormalities, Channel 7 Children's Research Foundation of SA, 01/01/2016 - 31/12/2017
Genetic analysis of Gaucher Disease, University of Cambridge, 14/04/2015 - 30/09/2017
Understanding the genetics of childhood diseases with Next Generation Sequencing, Channel 7 Children's Research Foundation of SA, 01/01/2016 - 31/12/2016
Research
Research outputs for the last seven years are shown below. Some long-standing staff members may have older outputs included. To see earlier years visit ORCID or Scopus
Open access indicates that an output is open access.
Year | Output |
---|---|
2015 |
Open access
119
110
8
|
2013 |
301
262
|
Year | Output |
---|---|
2024 |
Open access
3
|
2024 |
Open access
|
2023 |
Open access
2
2
1
|
2023 |
Open access
1
|
2022 |
Open access
3
3
6
|
2021 |
Open access
37
34
25
|
2021 |
43
42
2
|
2019 |
Open access
30
29
1
|
2017 |
Open access
41
38
3
|
2017 |
123
92
9
|
2016 |
Open access
22
20
17
|
2016 |
200
185
66
|
2016 |
27
19
1
|
2016 |
23
14
|
2016 |
157
135
2
|
2016 |
Open access
87
78
15
|
2016 |
177
156
3
|
2016 |
16
15
1
|
2015 |
Open access
71
5
|
2015 |
6
6
2
|
2015 |
Open access
96
222
99
|
2015 |
Open access
119
110
8
|
2015 |
Open access
90
84
|
2015 |
Open access
13
9
2
|
2014 |
Open access
228
205
19
|
2014 |
Open access
15
14
1
|
2014 |
Open access
217
198
20
|
2014 |
Open access
146
131
36
|
2014 |
Open access
198
176
12
|
2014 |
Open access
59
49
113
|
2014 |
Open access
21
20
3
|
2013 |
301
262
|
2013 |
Open access
9
9
|
2013 |
Open access
86
74
|
2013 |
Open access
14
10
|
2013 |
11
8
|
2013 |
19
17
|
2013 |
Open access
62
52
|
2013 |
Open access
130
122
|
2013 |
61
56
|
2012 |
11
9
|
2012 |
Open access
231
203
|
2012 |
Open access
311
283
|
2012 |
30
30
|
2012 |
15
15
|
2012 |
12
10
|
2012 |
Open access
76
64
|
2012 |
Open access
127
123
|
2011 |
Open access
98
91
|
2011 |
45
41
|
2011 |
Open access
26
23
|
2011 |
2
1
|
2011 |
Open access
4
4
|
2011 |
Open access
9
8
|
2011 |
Open access
15
15
|
2011 |
Open access
10
8
|
2011 |
Open access
91
83
|
2011 |
52
41
|
2010 |
Open access
106
103
|
2010 |
Open access
91
84
|
2010 |
68
60
|
2010 |
Open access
118
95
|
2010 |
13
13
|
2010 |
Open access
8
5
|
2010 |
Open access
91
79
|
2009 |
34
31
|
2009 |
Open access
80
70
|
2009 |
Open access
205
187
|
2009 |
Open access
154
121
|
2009 |
Open access
20
15
|
2009 |
145
128
|
2009 |
Open access
21
17
|
2008 |
26
22
|
2008 |
Open access
215
189
|
2008 |
Open access
372
334
|
2008 |
Open access
150
131
|
Research
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.
External engagement & recognition
Organisation | Country |
---|---|
Alder Hey Children's NHS Trust | UNITED KINGDOM |
Amplexa Genetics | DENMARK |
Anjo Kosei Hospital | JAPAN |
Austin Health | AUSTRALIA |
Australian National University | AUSTRALIA |
Baker Heart and Diabetes Institute | AUSTRALIA |
Bellaria Hospital | ITALY |
Ben Gurion University of the Negev | ISRAEL |
Bogazici University | TURKEY |
Carlo Besta Neurological Institute | ITALY |
Centre de Référence Épilepsies Rares | FRANCE |
Childrens Hospital of Philadelphia | UNITED STATES |
Chonnam National University | KOREA, REPUBLIC OF (SOUTH) |
Cleveland Clinic Foundation | UNITED STATES |
Columbia University | UNITED STATES |
Copenhagen University Hospital | DENMARK |
Cork University Hospital | IRELAND |
Countess of Chester Hospital | UNITED KINGDOM |
Danish Epilepsy Centre | DENMARK |
Duke University | UNITED STATES |
Erasmus MC, Rotterdam | NETHERLANDS |
Flinders Medical Centre | AUSTRALIA |
Flinders University | AUSTRALIA |
Florey Institute of Neuroscience and Mental Health | AUSTRALIA |
Folkhalsan Research Centre | FINLAND |
Garvan Institute of Medical Research | AUSTRALIA |
Ginatuna Association | ISRAEL |
Goce Delcev University | NORTH MACEDONIA |
Gold Service, Hunter Genetics | AUSTRALIA |
Grenoble Alpes University | FRANCE |
Grenoble University Hospital Centre (France) | FRANCE |
Griffith University | AUSTRALIA |
Hautepierre Hospital | FRANCE |
Helsingin Yliopisto | FINLAND |
Hopital Civil | FRANCE |
Imperial College of Science, Technology and Medicine | UNITED KINGDOM |
Institute for Breathing and Sleep | AUSTRALIA |
IRCCS Foundation | ITALY |
IRCCS Institute of Neurological Sciences | ITALY |
IRCCS Stella Maris Foundation Pisa | ITALY |
Istanbul University | TURKEY |
John Radcliffe Hospital | UNITED KINGDOM |
Juntendo Nerima Hospital | JAPAN |
Juntendo University | JAPAN |
Karolinska Institute | SWEDEN |
Klinikum Oldenburg | GERMANY |
Kork Epilepsy Centre | GERMANY |
Leiden University | NETHERLANDS |
Maggiore Hospital | ITALY |
Massachusetts General Hospital | UNITED STATES |
Mayo Clinic | UNITED STATES |
McGill University | CANADA |
McMaster University | CANADA |
Monash Medical Centre | AUSTRALIA |
Monash University | AUSTRALIA |
Montreal Neurological Hospital and Institute | CANADA |
Murdoch Childrens Research Institute | AUSTRALIA |
National Administration of Laboratories and Health Institutes of Argentina | ARGENTINA |
National Neuroscience Institute | SINGAPORE |
National Research Council | ITALY |
National Research Council of Italy | ITALY |
Niguarda Hospital | ITALY |
North Shore University | UNITED STATES |
Northern Health | AUSTRALIA |
NorthShore University HealthSystem | UNITED STATES |
Novocraft Technologies SDN Bhd | MALAYSIA |
Ohio State University | UNITED STATES |
Pathology Queensland | AUSTRALIA |
Peking University | CHINA |
Peter MacCallum Cancer Centre | AUSTRALIA |
Queensland Children's Hospital | AUSTRALIA |
Queensland Health Lady Cilento Children's Hospital | AUSTRALIA |
Queensland Institute of Medical Research | AUSTRALIA |
Radboud University Nijmegen | NETHERLANDS |
Royal Alexandra Hospital for Children | AUSTRALIA |
Royal Children’sHospital | AUSTRALIA |
Royal Children's Hospital | UNITED KINGDOM |
Royal Children's Hospital, Victoria | AUSTRALIA |
SA Pathology | AUSTRALIA |
Sackler Faculty of Medicine | ISRAEL |
Schneider Children’s Medical Center of Israel | ISRAEL |
Schneider Children's Medical Centre of Israel | ISRAEL |
Seirei Hamamatsu General Hospital | JAPAN |
Shizuoka Institute of Epilepsy and Neurological Disorders | JAPAN |
Sleep Medicine Center Italy | ITALY |
Sorbonne University | FRANCE |
St. Lucas Andreas | NETHERLANDS |
Stem-Cell and Brain Research Institute | FRANCE |
Sydney Children's Hospital | AUSTRALIA |
Tanabe-Kadobayashi Children's Clinic | JAPAN |
Tel Aviv Sourasky Medical Centre | ISRAEL |
Tel Aviv University | ISRAEL |
Temple University | UNITED STATES |
Tokyo Women's Medical University | JAPAN |
UCL Institute of Neurology | UNITED KINGDOM |
Universit at Bielefeld | GERMANY |
University College London | UNITED KINGDOM |
University Hospital Geneva | SWITZERLAND |
University Hospital Heidelberg | GERMANY |
University Libre Bruxelles | BELGIUM |
University of Adelaide | AUSTRALIA |
University of Antwerp | BELGIUM |
University of Bologna | ITALY |
University of Bonn | GERMANY |
University of British Columbia | CANADA |
University of Buenos Aires | ARGENTINA |
University of California | UNITED STATES |
University Of California, San Francisco (Ucsf) | UNITED STATES |
University of Cambridge | UNITED KINGDOM |
University of Cologne | GERMANY |
University of Copenhagen | DENMARK |
University of Florence | ITALY |
University of Genoa | ITALY |
University of Genova | ITALY |
University of Heidelberg | GERMANY |
University of Helsinki | FINLAND |
University of Iowa | UNITED STATES |
University of Kiel | GERMANY |
University of Leeds | UNITED KINGDOM |
University of Leipzig | GERMANY |
University of Melbourne | AUSTRALIA |
University of Messina | ITALY |
University of Newcastle | AUSTRALIA |
University of Otago | NEW ZEALAND |
University of Padua | ITALY |
University of Paris Descartes (Paris 5) | FRANCE |
University of Pennsylvania | UNITED STATES |
University of Queensland | AUSTRALIA |
University of South Australia | AUSTRALIA |
University of South Denmark | DENMARK |
University of Southern Denmark | DENMARK |
University of Split | CROATIA |
University of Sydney | AUSTRALIA |
University of Tubingen | GERMANY |
University of Washington | UNITED STATES |
University of Washington, Seattle | UNITED STATES |
University of Western Australia | AUSTRALIA |
Walter and Eliza Hall Institute of Medical Research | AUSTRALIA |
Wellcome Trust Sanger Institute | UNITED KINGDOM |
Western Galilee Hospital | ISRAEL |
Wolfson Medical Center | ISRAEL |
Women and Children's Health Research Institute | CANADA |
Women's and Children's Health Network | AUSTRALIA |
Women's and Children's Hospital | AUSTRALIA |
Yale School of Medicine | UNITED STATES |
External engagement & recognition
Engagement/recognition | Year |
---|---|
Project Grant: The identification of new epilepsy genes by whole genome sequencingNational Health and Medical Research Council (NHMRC) |
2017 |
MemberAmerican Society of Human Genetics (ASHG) |
2016 |
MemberInternational Child Neurology Association (ICNA) |
2016 |
MemberAmerican Epilepsy Society (AES) |
2016 |
MemberHuman Genetics Society of Australasia (HGSA) |
2016 |
Project GrantNational Health and Medical Research Council (NHMRC) |
2016 |
Career Development FellowshipNational Health and Medical Research Council (NHMRC) |
2012 |
Teaching & student supervision
Supervisions from 2010 shown
Thesis title | Student status |
---|---|
Nutritional genomics and neurological disease (epilepsy) | Current |
Understanding the genetics of Focal Epilepsies through the identification of the spectrum of variants and their combinatorial effects by whole genome sequencing | Current |
Exploring the pathomechanisms underlying focal epilepsies | Completed |