Genomic Medicine

Welcome to the Cooper Lab!

Our vision: To identify and understand the genetic basis and mechanism of disease in families affected with rare neurological disorders and inform evidence-based therapeutic interventions.

A molecular diagnosis is the crucial turning point for individuals and families affected by genetic disorders. It enables precision medicine tailored to anticipate and prevent complications associated with the affected individual’s specific disease, allows genetic counseling for the wider family unit, and informs family planning to help diminish anxiety regarding disease recurrence. In some instances, a genetic diagnosis can highlight the clinical utility of an available treatment

Over the last 5 years, genomics research in the Cooper Lab has provided genetic answers for > 350 families who remained undiagnosed by current routine genomic diagnostics.  With the support of families affected by undiagnosable neuromuscular conditions, we have identified:

  • 7 new genes associated with genetic neuromuscular disorders.   New diagnoses that help one family in Australia has the knock-on effect of helping hundreds of families around the world with the same condition also receive a diagnosis.   
  • A new class of variant that disrupts the RNA message made from the DNA.  Our discovery stems from two Australian families without a genetic explanation for their condition.  The core mechanism at play, now defined, is relevant to diagnosis of all rare disorders and inherited cancer predisposition.

Our research is making a difference for families affected by genetic conditions:

“Thank you for looking into my daughter's [condition]. It been 6 years since my daughter was born and we were still looking for answers as to what variant had caused her [condition]. Your research has now found now she has [a variant] that has never been reported in any population databases. The information is pivotal for future Genetic counselling for my daughter and our extended family. Thank you again for your extensive research and answering the unanswered.”

And for the clinicians managing their care: 

Thanks Sandra and Adam - your service to the Australian clinical genetics community is amazing and hugely appreciated.”

Genomic Medicine Team Members:

  1. Professor Sandra Cooper (Group Head)
  2. Mr Himanshu Joshi (Genomic Informatics Team Leader)
  3. Dr Chiemi Lynch-Sutherland (RNA4RD Project Officer)
  4. Mr Peter Kneale (Genomic Informatics Software Engineer)
  5. Dr Adam Bournazos (RNA4RD Postdoctoral Fellow)
  6. Dr Frances Lemckert (RNA4RD Senior Scientist)
  7. Ms Raisa Hasan (RNA4RD Research Assistant)
  8. Mr Rhett Marchant (PhD Student)
  9. Mr William He (Honours Student)


Overview of Genomic Medicine Team Projects:

1. RNA for Rare Disease (RNA4RD):  Kids Neuroscience Centre’s Professor Sandra Cooper is leading a national, collaborative project to embed RNA Diagnostic testing into clinical practise across Australia. Genetic disorders affect 1 in 100 individuals. A precise genetic diagnosis is the key to personalised healthcare, disease prevention, and sometimes a cure or treatment. For the 50% of families undiagnosed after DNA testing, the answer can lie in their RNA.

KNC’s Genomic Medicine Group has become a national reference centre for RNA testing.  The RNA4RD project will transfer these skills into accredited diagnostic laboratories such that RNA diagnostics can become embedded into mainstream clinical practise within 3 years, vastly improving diagnoses of families living with rare genetic diseases or inherited cancer predisposition and revolutionising their personalised health care options.

A blue and white logoDescription automatically generated2. RNA-Suite:  We are developing of a suite of clinician-friendly RNA tools, and validating their accuracy and reliability within our RNA4RD Reference Centre for RNA testing .  Our goals are to: i) accelerate and enhance clinical abilities to identify and interpret DNA variants that may alter RNA splicing, and ii) to upskill and enable the ability of any diagnostic laboratory to conduct robust, quality controlled, RNA testing.

3. Diagnose the Undiagnosable:  KNC’s Genomic Medicine bioinformaticians and research scientists throw the ‘genomics kitchen sink’ to find elusive causes of undiagnosed neurological conditions. For some families affected with a ‘1 in a billion’ disorder and nowhere else to turn, we find answers.  Getting enough evidence to conclusively establish a new disease-gene association takes years of dedicated research.  Identifying the first family in the world affected with a new disorder is extremely impactful for my team, the affected family, and for other families around the world affected by the same disorder; many of whom use the molecular diagnosis for prenatal counselling and genetic screening for newborn disease prevention.  

“Making a difference is what gets us up in the morning!”

4. NeuroRUNWAY to Treat the Untreatable:  Working side-by-side with our Neurology colleagues Randwick Children’s Hospital, Kids Neuroscience Centre within the Children’s Hospital at Westmead are driving development of a “Diagnosis-to-Precision-Therapeutics Runway for Children with Neuro Disorders” - which we call NeuroRUNWAY.

The Genomics Medicine team are leveraging disruptive advances RNA delivery methods developed for global COVID-19 vaccination programs, with our deep expertise in genetic conditions caused by RNA splicing defects identified through our RNA for Rare Disease clinical testing program and 25 years of deep mechanistic research into neuromuscular conditions. 

We are innovating better ways for optimised delivery of RNA therapies to the skeletal muscle and/or central nervous system, which can be tricky organs to target.

We are developing a robust framework for development and pre-clinical evaluation of two, therapeutic pipelines. 

  1. Targeted antisense oligonucleotide (AS) therapies to correct a RNA splicing defect causing a genetic condition. 
  2. Delivery of RNA encoding a functional protein as replacement therapy for disorders due to a protein or enzyme deficiency.  We hope to develop a lipid nanoparticle delivery system optimised to target and fuse with muscle and/or nerve cells for optimised delivery of their therapeutic RNA cargo.

5. Answers for Rare Disorders (private) Biobank:  Powering tomorrow’s medicine.

All of KNC’s research discoveries over the last 25 years has been powered by our Answers for Rare Disorders private Biospecimen Bank (previously called Kid’s Neurobank).

Despite huge advances in genomic testing, around 50% of individuals tested do not receive a genetic diagnosis.  Many people need samples or biopsies taken for other diagnostic investigations, and leftover samples are often discarded.  It is impossible for Hospital departments to store samples from person tested over the long term.  

KNC’s Answers for Rare Disorders private Biospecimen Bank provide secure, long-term storage for thousands of biospecimens, to power future research and improve clinical care for families suffering from rare genetic disorders. In this way, families who remain without a diagnosis or treatment will have access to new technologies as they become available, and future families recruited into the study will have access to necessary control specimens to power new research discoveries.  

“Samples are the key to enable research to unlock diagnoses and develop therapies.”

Kids Neuroscience Centre provides an internationally regarded “one-stop-shop” for frontier diagnostics, for deep mechanistic studies to pinpoint the crux of disease processes, discover clinically meaningful biomarkers, and to develop and validate novel therapeutic interventions. 


Did you know?

Sequencing the first human genome took 13 years (1990-2003) and cost US$ 3billion. In 2016, a human genome can be sequenced over a few days, for around US$ 1000.

Image of DNA double helix and sequenced data. Image by Wellcome Images (Creative commons)