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Accelerated gene identification for families with rare genetic disorders

Home Research projects using our data Accelerated gene identification for families…

Primary organisation: Murdoch Children's Research Institute (MCRI)

Principal Investigator: Professor Paul Lockhart

Flagship requested: Acute care genomics (WGS/V2), Cardiovascular genetic disorders

Co-applicants: Professor Melanie Bahlo (WEHI – Walter and Eliza Hall Institute of Medical Research), Dr Haloom Rafehi (WEHI)

Approval date: June 2022

Applicant’s project summary:

This project involves the use of new genetic technologies to find the cause of rare genetic conditions for which the cause is currently unknown. Although most individual genetic disorders are rare, collectively they are common and have a significant impact on human health. Our research aims to provide gene identification for families and affected individuals with rare genetic disorders, with particular emphasis on disorder of brain structure and function, in order to be able to provide feedback to families via genetic counselling and genetic testing where appropriate. Data from Australian Genomics participants’ families will act as a control cohort. This will help us to optimise gene identification for our studies families and affected individuals.

More projects

Genomic diagnosis and gene discovery in rare disease via analysis of existing samples and datasets

Evaluating the clinical utility of polygenic risk scores for inherited cardiac disease

The role of TTN variants in Inherited Cardiomyopathies and Arrhythmias

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info@australiangenomics.org.au
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Victoria 3052 Australia

In the spirit of reconciliation Australian Genomics acknowledges the Traditional Custodians of country throughout Australia and their connections to land, sea and community. We pay our respect to their elders past and present and extend that respect to all Aboriginal and Torres Strait Islander peoples today.

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