Neurogenetic diseases


Student project opportunities

  • Project 1: Disease gene discovery for neurogenetic and neuromuscular diseases
  • Project 2: Understanding the pathobiology of neurogenetic and neuromuscular diseases.
  • Project 3: Devising and evaluating therapies for neurogenetic and neuromuscular diseases


Disease gene discovery for neurogenetic and neuromuscular diseases

Research area: Molecular genetics, neurogenetics, molecular biology, bioinformatics
Chief supervisor: Professor Nigel Laing
Other supervisors: Dr Gina Ravenscroft
Project suitable for: Honours, Masters, PhD
Essential qualifications: BSc
Start date: Flexible

Project outline

Determining the genetic cause of a disease is vital information for patients and their families, their clinicians, and the medical researchers studying that disease. Once the genetic defect is known, some of the direct outcomes are:

  • A molecular genetic diagnosis can be given to the patient, and genetic counselling can be better informed (e.g. disease prognosis, determining the likelihood of further family members being affected by the disease)
  • Medical researchers can better study the pathobiology of disease (e.g. how does the defective or missing gene actually cause the disease?)
  • Medical researchers can rationally design potential therapies and evaluate their efficacy

The Neurogenetic Diseases Group has identified >30 new disease genes, for a range of diseases, though mainly neurogenetic and neuromuscular diseases. It is currently a very exciting era in molecular genetics due to the availability of “next generation sequencing” tools. Researchers now have the capacity to “crack” the disease genes for many more patients and families than they were previously able to. We can also investigate genetic modifiers of disease, such as why some people in the same family have a milder disease than others. If we could learn why this happened, we could tap into the cause as a potential therapeutic route.

The Neurogenetic Diseases Group is a leading laboratory in Australia and internationally, in the application of next generation sequencing techniques to neurogenetic diseases. There has been a rapid increase in the number of new disease genes being identified. Through the Group's local, national and international collaborations (both clinical and scientific), this Group always has interesting families and groups of patients available for study. If you would like to be at the forefront of the disease gene discovery field, making an immediate, significant and direct impact on the patients and families you study, please get in touch to discuss the Group's latest projects in disease gene discovery.

Contacts
Professor Nigel Laing - Nigel.Laing@perkins.uwa.edu.au
Associate Professor Gina Ravenscroft: Gina.Ravenscroft@perkins.uwa.edu.au


Understanding the pathobiology of neurogenetic and neuromuscular diseases

Research area: Recombinant protein production, tissue culture, molecular biology, animal models, physiology
Supervisors: Dr Gina Ravenscroft, Dr Rhonda Taylor, Professor Nigel Laing
Project suitable for: Honours, Masters, PhD
Essential qualifications: BSc
Start date: Flexible

Project outline
Having a good insight into the pathobiology of a disease is necessary not only for a better understanding of what is occurring in the diseased tissues of patients, but also for deciphering what normally happens in non-diseased tissues. Thus, medical researchers strive to unravel how the defective protein produced from the disease gene, or indeed a missing gene product, actually causes disease.

The information gained from pathobiological studies is often the clincher in proving that a variant in a particular gene is disease causing. Therefore, significant headway in the area of pathobiology usually occurs in conjunction with the discovery of new disease genes, or when previously known disease genes are identified as causing a different phenotype. Knowledge of the pathobiology of a disease is essential to rational design of potential therapies for patients.

Due to the strong gene discovery arm of the Neurogenetics Disease Group, there is a suite of different pathobiological studies occurring within the Group. These studies are focused predominantly, but not exclusively, towards neurogenetic diseases. The techniques involved include tissue culture experimentation, production and purification of recombinant proteins, protein modelling and analyses of mouse models. Studies are often conducted in collaboration with a range of strong collaborators from around the world.

If you’d like to be involved with proving that a putative disease gene is indeed the one at fault for a given disease, and/or resolving the processes which underpin a defective gene leading to a disease, please get in touch to discuss the latest projects being offered by this research Laboratory.

Contacts
Associate Professor Gina Ravenscroft: Gina.Ravenscroft@perkins.uwa.edu.au
Dr Rhonda Taylor: rhonda.taylor@perkins.uwa.edu.au
Professor Nigel Laing - Nigel.Laing@perkins.uwa.edu.au

 

Devising and evaluating therapies for neurogenetic and neuromuscular diseases

Research area: Mouse models, adeno-associated viral delivery, CRISPR technology, tissue culture, genetic engineering, mouse phenotyping
Supervisors: Dr Gina Ravenscroft, Dr Rhonda Taylor, Dr Josh Clayton, Professor Nigel Laing
Project suitable for: Honours, Masters, PhD
Essential qualifications: BSc
Start date: Flexible

Project outline
Having the ability to study animal models is often crucial for medical researchers to devise and then evaluate potential therapies for disease. Even if certain experiments can be performed in tissue culture, ultimately studies require an animal model to be the test-bed to allow appropriate and thorough evaluation. The Neurogenetic Diseases Group has extensively studied a range of neurogenetic and neuromuscular diseases in mouse models, and is continuing to do so. Techniques used to phenotype mice include tissue biopsy and histology, immunostaining, various types of microscopy, protein and RNA extraction, voluntary running wheel analysis, muscle physiology, and magnetic resonance imaging.

Knowledge of the disease gene, and often pathobiology too, is used to rationally design potential therapies for patients, e.g. a drug might be used to circumvent what is going wrong, or a virus could deliver the missing protein and prevent/reverse disease. We have additionally trialed a range of therapeutic approaches with the mouse models we have characterised. These include successful work upregulating an alternative gene from the same gene family as the one that is causing the disease. Various other approaches such as viral delivery, and CRISPR technology are currently being evaluated.

Successful proof of concept experiments in a mouse model, are significant steps in the right direction towards disease prevention or a cure.

Please contact us to discuss the possible projects on offer in the Neurogenetic Diseases Group therapies team if you are inspired to try to develop therapies for diseases. If you choose such a project, you would use a range of exciting techniques in a well-established and respected laboratory, and in most cases in collaboration with first-rate international collaborators.

Contacts
Associate Professor Gina Ravenscroft: Gina.Ravenscroft@perkins.uwa.edu.au
Dr Rhonda Taylor: rhonda.taylor@perkins.uwa.edu.au
Dr Josh Clayton: josh.clayton@uwa.edu.au
Professor Nigel Laing - Nigel.Laing@perkins.uwa.edu.au

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