Better diagnosis thanks to advanced new technology
By leafcutter_admin | Disease Area, Genetic Disease, Lab, Neurogenetic Diseases, News & Events, ResearchWorking with international research groups, including the Broad Institute in Boston, the teams used a new technology called RNA-sequencing that interprets the ‘messages’ from genes, rather than observing the genes…
Sudden infant cardiac death explained by gene mutation
By leafcutter_admin | Lab, Molecular Medicine, Neurogenetic Diseases, News & Events, Research, Research AreaLast 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…
Perkins researchers decipher world-first muscle disorder cases
By leafcutter_admin | Disease Area, Genes, Lab, Molecular Medicine, Muscles, Neurogenetic Diseases, News & Events, Research, Research AreaDuring 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…
Sharpening the focus on muscle diseases
By leafcutter_admin | Disease Area, Genes, Lab, Molecular Medicine, Muscles, Neurogenetic Diseases, News & Events, Research, Research AreaDr 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…