Biography & Net Worth: Researchers have discovered more than 1300 genes associated with congenital heart disease

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One in 100 babies is born with congenital heart disease (CHD), and CHD is the leading cause of death in newborns, but the genetic causes of these developmental disorders are not fully understood and are precise prenatal. This hinders the development of genetic testing.

Currently, researchers from Monash University in Melbourne, Australia, the gene is “involved” in causing these heart abnormalities. This technique not only identified well-known CHD genes, but also discovered 35. The new gene was not suspected before the disease. This study paves the way for more accurate prenatal genetic testing in the future. congenital heart disease..

published in joint research genome biology, The identification of the gene responsible for the disease led jointly by Associate Professor Mirana Lamiarison of the Australian Institute of Regenerative Medicine and Murdoch Pediatric Institute at Monash University and Dr Travis Johnson of the Faculty of Biological Sciences at Monash University. with the aim of improving the outlook of Dr. Hiu Nim of the Australian Regenerative Medicine Institute, said, focuses only on examining genes present in the heart – an approach that often overlooks genes present in other tissues, even though they play an important role in heart development. Huh. ,

Dr Nim said, “The secret was to access the genomic database to identify genes that were specifically “turned on” in the heart. The resulting computational pipeline for the identification of genes that may be associated not only with genes specific to the heart, but also to other organs, such as the liver and kidney, as they are not unique to the heart. Associate Professor Lami Ellison said.

Later, researchers used vinegar fries. Drosophila melanogaster, as a test model to determine some of the functional effects of these novel genes. researchers use Drosophila Understanding the genetic mechanisms of many human diseases is an established model organism. This is because about 75% of the genes responsible for human disease are similar in flies, are easy to handle, reproduce quickly, and have many tools available to manipulate genes. . ,

According to Dr. Johnson Drosophila the study “reveals a long list of high-quality candidate genes for causing cardiac abnormalities in humans and gives real insight into how vulnerable this organ is to genetic mutations.”

Dr. Johnson cautioned that the identification of dozens of new CHD candidate genes to provide more accurate prenatal genetic testing for CHD will take some time. “We now need to do functional studies of all these genes in animal experiments to determine exactly what they do, but now is a good starting point. I have.”

Genetic study of heart defects and autism leads to discovery of new causative genes

for more information:
Hugh T. Nim et al, Sith-regulated-oriented pipeline for identification of genes involved in cardiac development and disease, Genome Biology (2021). DOI: 10.1186/s13059-021-02539-0

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Monash University

CitationResearchers discover more than 1300 genes linked to congenital heart disease (December 15, 2021), December 15 at Heart. Obtained from html. , 2021.

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