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Genome Biology and Genetic Diseases Program

CancerCancer and Cell BiologyDisease AreaGenesLabNews & EventsResearchResearch AreaSystems Biology and Genomics

Ground-breaking new study doubles the estimate of our functional genes

By | Cancer, Cancer and Cell Biology, Disease Area, Genes, Lab, News & Events, Research, Research Area, Systems Biology and Genomics

The findings, published in Nature, were the latest work of the FANTOM5 consortium, a group of researchers from Japan and Australia led by Professor Alistair Forrest from the Perkins and The University of…

LabMolecular MedicineNews & EventsRare Disease Genetics and Functional GenomicsResearchResearch Area

Sudden infant cardiac death explained by gene mutation

By | Lab, Molecular Medicine, News & Events, Rare Disease Genetics and Functional Genomics, Research, Research Area

Last year the Perkins Neurogenetic Diseases Laboratory received DNA from a family in Scotland whose four-month-old baby had tragically suffered a cardiac arrest and died. With the family’s permission, their doctor sent…

Disease AreaGenesLabMolecular MedicineMusclesNews & EventsRare Disease Genetics and Functional GenomicsResearchResearch Area

Perkins researchers decipher world-first muscle disorder cases

By | Disease Area, Genes, Lab, Molecular Medicine, Muscles, News & Events, Rare Disease Genetics and Functional Genomics, Research, Research Area

During their investigation the multi-national team of researchers studied a muscle protein that is strongly influenced by calcium. The protein, known as tropomyosin-3 (TPM3), is vital for skeletal muscle development…

Epigenetics and Genomics LaboratoryLabMolecular MedicineNews & EventsResearchResearch Area

Groundbreaking discovery on the process of vertebrate development

By | Epigenetics and Genomics Laboratory, Lab, Molecular Medicine, News & Events, Research, Research Area

Professor Ryan Lister and Dr Ozren Bogdanovic from the Perkins Epigenetics and Genomics Laboratory led the study, which has been published in in the prestigious journal Nature Genetics. Their work is focused on…

Disease AreaGenesLabMolecular MedicineMusclesNews & EventsRare Disease Genetics and Functional GenomicsResearchResearch Area

Sharpening the focus on muscle diseases

By | Disease Area, Genes, Lab, Molecular Medicine, Muscles, News & Events, Rare Disease Genetics and Functional Genomics, Research, Research Area

Dr Gina Ravenscroft, who is lead author of the review published by the prestigious journal Brain, works in the Neurogenetic Diseases Laboratory at the Harry Perkins Institute of Medical Research; one of the world's…