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Genetic Repositories Australia (GRA)


The cohorts that appear within GRA’s Biorepository Catalog have appropriately consented material (DNA and/or Cell line) available for distribution.

From the menu items on the left select the disease category, each of which contain multiple cohorts, to browse collection and download accompanying minimal clinical dataset/s at the base of each page.

Information on how to access GRA Material can be found here.

Frontotemporal Dementia

DNA & Cell line – 326 samples

The specific aims of this project are to identify gene mutations that cause neurodegenerative diseases to develop, in particular the focus is on various forms of FTD including its association with MND, and early onset Alzheimer’s disease. The project seeks to identify and understand the different ways that genes are involved in neurodegeneration. Patients are recruited by clinicians and clinical information regarding family history and other relevant information is collected. Very early cognitive, behavioural and imaging features of familial FTD are assessed and most patients are monitored longitudinally with questionnaire’s to monitor disease progression. This collection of data allows the detailed investigation of phenotype-genotype correlations.

Motor Neuron Disease

DNA & Cell line – 8 samples

MND also known as amyotrophic lateral sclerosis (ALS) is an illness, typically causing death within 3-5 years of onset of symptoms. While 90% of cases of MND/ALS are sporadic, the only proven causes of MND/ALS are gene mutations leading to motor neuron death; known genes only account for approximately 2% of all cases of MND/ALS.The project seeks to identify and investigate the biology of genes that either cause or predispose to MND/ALS through genome screens to identify chromosomal regions that harbour MND/ALS genes and then identifying, cloning and performing functional analyses of those genes. The cohort consists of participants with sporadic cases of MND, aged between 50-80.

DNA & Cell line – 50 samples

Stroke is a leading cause of disability accompanied by loss of brain function due to a disturbance in blood supply, lack of blood flow or haemorrhage. A mutation on the brain-derived neurotrophic factor gene is known to limit activity-induced plasticity and recovery after stroke.Genetic factors and biomarkers may assist in the identification of effective rehabilitation strategies and stroke vulnerability in healthy populations.DNA and cell lines derived from stroke patients aged 20-80 (4-144 months post-stroke haemorrhagic/ischemic) who participated in studies investigating a novel post–stroke rehabilitation strategy (Wii-based Movement Therapy) including assessments of movement ability pre- and post-therapy are available.

Older Australian Twins

DNA & Cell line – 562 samples

The Older Australian Twins Study (OATS) is the most comprehensive ageing study with elderly twins ever undertaken in Australia. Study participants are 65 years and older identical and non-identical twin pairs, living across the eastern seaboard. They undergo rigorous medical and cognitive function tests and are asked to provide bloods samples for DNA and cell line establishment as well as MRI scans of their brain. Information about environmental factors, such as lifetime physical and mental activity, physical and psychological trauma, and nutrition is also collected. Comprehensive cardiovascular tests, and in some instances, falls and balance checks are also provided. Two-year and four-year follow-up tests are carried out to measure change.

DNA & Cell line – 271 samples

The Sydney Centenarian Study aims to study the genetic, environmental and cognitive factors influencing longevity. The findings will shed light on which factors are particularly important for ageing well, which in turn will allow us to inform lifestyle choices in younger and middle aged Australians. The findings will also inform decisions to improve the quality of life of older Australians, and plan for future older generations. This is particularly important as we have an ageing population and need to ensure the health system is prepared. The study participants are 95 years and above, living in the Sydney locality. Comprehensive examinations of physical, psychological, and cognitive status are included, as well are MRI scans and blood tests (where possible). Follow-up assessments are conducted at 6 monthly intervals to track changes in physical and cognitive ability.
Ageing Intellectually Disabled

DNA & Cell Line – 9 samples

People with intellectual disability are living longer, more active and productive lives. As they age, people with intellectual disability face the same physical and mental health issues as the rest of the community, but some will experience these at much younger ages. This study aims to examine the occurrence of physical and mental health problems in older people with intellectual disability, and which factors assist those persons with intellectual disability to retain their health as they age.

The study is a new collaboration between researchers from the University of New South Wales, La Trobe University, and Monash University. Study participants are 40 years and older, living across Sydney and Illawarra, NSW and Bendigo, Victoria. The main guardian of the participant is required to complete an extensive questionnaire regarding the physical and mental health of the person with intellectual disability. A proportion of participants are invited to complete a psychometric assessment and provide blood samples for DNA with a few selected individuals invited to undergo a MRI scan. Thirty-month and 60-month follow ups are carried out to measure change in cognitive, physical and mental health.

Mental Illness
Bipolar disorder

DNA & Cell line ~ 360 samples

The Bipolar Kids and Sibs project is an ongoing longitudinal study that is being conducted to identify factors associated with the development of bipolar disorder within a high-risk population. Individuals aged between 12 to 30 are being recruited from three distinct groups: those with a first-degree relative with a formally diagnosed bipolar (I or II) disorder, those who themselves have already been diagnosed with bipolar disorder, and those with no family history of major psychiatric illness.

The study aims to identify clinical and/or biological features (including neuroanatomical and genetic) that are more common among those who go on to develop bipolar disorder, in the hope of improving earlier detection and diagnosis. In addition it is hoped that this study can identify clinical and/or biological changes that precede the development of symptoms associated with bipolar disorder. Participants complete a comprehensive clinical and neuropsychological assessment, undergo both structural and functional MRI, and provide blood samples for genetic analyses.


DNA & Cell line – 136 samples

The primary objective of this double-blind, cross-over, placebo controlled study was to determine the extent to which administration of the selective oestrogen receptor modulator raloxifene can reverse cognitive impairment, reduce symptoms and normalise brain activity in people with schizophrenia. People with a diagnosis of schizophrenia or schizoaffective disorder between the ages of 18 and 55 who were treated for at least one year with any anti-psychotic medication were recruited.

Any people with an Axis I psychiatric diagnosis other than schizophrenia or schizoaffective disorder and a history of current substance abuse (within past 5 years), head injuries with concomitant loss of consciousness, seizures, central nervous system infection, diabetes, hypertension, mental retardation, or contraindications to the administration of raloxifene were excluded.
DSM-IV diagnosis of schizophrenia or schizoaffective disorder was confirmed using the Structured Clinical Interview for Diagnostic and Statistical Manual IV. A sample of 80-90 healthy adults in the same age range 18 to 55 years old were also assessed on the same parameters to provide a comparison group.
Schizophrenia and Bipolar disorder
DNA and Cell line – 195 samples

This cohort has been convened to determine genetic markers of cross-disorder intermediate (endo) phenotypes that span the diagnostic categories of schizophrenia and bipolar-I disorder. Participants in the study are between 18 and 60 years old and have a diagnosis of schizophrenia, schizoaffective disorder, or bipolar I disorder. There is also a subset of healthy control participants with no previous history of psychiatric disorder or psychosis in first degree relatives.

In addition to donating a blood sample for genetic analysis, participants also undergo comprehensive clinical and cognitive assessment, provide saliva samples, and undergo a structural and functional magnetic resonance imaging (MRI).
First episode psychosis

DNA only – 66 samples

Stress and abnormal functioning of the hypothalamic-pituitary-adrenal (HPA) axis have been reported in patients with schizophrenia and other psychotic disorders. The project seeks to gain a greater understanding of the role of stress and HPA dysfunction in First Episode Psychosis and an insight into underlying neurobiological mechanisms involved in progressive brain volume loss in psychotic disorders. Samples from drug naive First Episode Psychosis patients and healthy matched control subjects, aged between 15-25, were obtained.

Biological measures of HPA function, psychopathology, medication compliance, neurocognition, life events/daily hassles, perceived stress, coping style, experience of trauma, Magnetic Resonance Imaging (MRI) and MR Spectroscopy (MRS) brain scans were analysed to achieve the aims of the project.

Cerebral Palsy

DNA & Cell line – 269 samples

The Genomics of Cerebral Palsy study is the most comprehensive research study of children with cerebral palsy to be undertaken in Australia. Participants and their parents were asked to provide blood samples for DNA and cell line establishment; families were collected as trios, duos and singletons. Study participants are typically between the ages of 2 – 18 yrs. Cases were recruited in SA, WA, QLD & NSW, mainly through botox theatre lists at major children’s hospitals. A comprehensive maternal questionnaire was required where information about environmental factors, such as infections and complications during pregnancy were also collected. Consent was obtained to access medical records, midwife notes and specialists reports; all clinical information was cross-checked by linkage to state CP Registers.

Fragile X Syndrome

Sydney Study – DNA & Cell line – 50 samples

Fragile X-associated tremor ataxia syndrome is a recently identified neurodegenerative disorder affecting a proportion of older adults who carry a moderate expansion (also known as a ‘premutation’) of the Fragile X gene. Symptoms of disorder include problems with balance, coordination, memory and thinking skills. At present, the understanding of this syndrome, including why some people develop cognitive and motor symptoms and others do not, is in its infancy. In this project we are performing detailed memory and balance tests on adults (aged 18+) who carry the Fragile X premutation to determine the effect of the gene expansion on their health.

Melbourne Study – DNA & Cell line – 72 samples

The data is a collection from a multi-site and inter-disciplinary study that was funded through the Australian Research Council examining the genetic, neurobehavioural and neuromotor signatures in female carriers of the fragile X syndrome. This project was aimed at characterising developmental trajectories and identifying early precursors to later neurological decline in a recently described neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome. We provide data on CGG-repeat length as determined by Triple Primed PCR (Asuragen) and Southern Blot. Determination of Southern methylation status was from peripheral blood.
Pink Disease

DNA & Cell line – 25 samples

Autism spectrum disorders (ASDs) are classed as neurodevelopmental disorders characterised by impairments in social relatedness and communication, repetitive behaviours, abnormal movement patterns, and sensory dysfunction. While the prevalence of these disorders is increasing, the neurobiological and environmental causes of ASD still remain elusive. Pink Disease has an age of onset usually between 6-12 months with the most common known cause being mercury containing teething powders. While the use of mercury in teething powders was banned in the 1950’s, there were, and still are, numerous other household, industrial, natural, agricultural and medical sources of mercury in the environment. This project proposes to examine the link between mercury sensitivity and the development of ASD by examining the mechanisms of mercury sensitivity between cells derived from individuals with ASD and normal controls. The cohort consists of participants diagnosed with Pink disease at 0.5-1 years old, and aged between 60-75 years old when the samples were taken.

Healthy Population

Aussie Normals

DNA & Cell line – 361 samples

The Aussie Normals are a collection from a longitudinal study of healthy Australians in which we are determining haematological, biochemical and immunological metrics for healthy Australians using community sampling; and to establish a valuable research resource in the form of a repository of DNA, RNA and cell lines from these samples which will be made available as thoroughly documented healthy controls in genetics studies; and to measure health outcomes of participants at 5 years and to evaluate the associations between these outcomes, the baseline phenotypic measures and accumulating genotypic data. The samples are equally distributed across both genders and age ranges 18-29, 30-39, 40-49, 50-59, and 60+

Case Example – Aussie Normal cohort assisting MND research

“Identifying new gene mutations for motor neuron disease”
Dr Ian Blair & Prof Garth Nicholson, ANZAC Research Institute & the University of Sydney.

“Amyotrophic lateral sclerosis (ALS, also known as motor neuron disease, MND) is a rapidly progressive neurodegenerative disorder, leading to death within 3 to 5 years of first symptoms. There is a pressing need to develop more effective diagnostic tools and treatments for ALS. The long-term aim of our research is to identify and investigate the biology of those genes that either cause or predispose to ALS. Therefore, we are comparing and contrasting the in vitro properties of mutant and wild-type TDP-43 in various cell lines from ALS cases and controls (including those from the Aussie Normal cohort). This should give insights to the functional consequences of TDP-43 mutations in patient cells”.


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