Understanding the effects of genes on human traits

July 31, 2013

Recent technological developments in genomics have revealed a large number of genetic influences on common complex diseases, such as diabetes, asthma, cancer or schizophrenia. However, discovering a genetic variant predisposing to a disease is only a first step. To apply this knowledge towards prevention or cure, including tailoring treatment to the patient's genetic profile –also known as personalized medicine – we need to know how this genetic variant affects health.

In a study published today in Nature Communications, Dr. Constantin Polychronakos from the Research Institute of the McGill University Health Centre (RI-MUHC), and collaborators from McGill University and The University of Texas, propose a novel approach for scanning the entire genome that will help us understand the effect of genes on human traits.

"This completely new methodology really opens up different ways of understanding how the genome affects the biology of the human body", says Dr. Polychronakos, corresponding author of the study and Director of the Endocrine Genetics Laboratory at the Montreal Children's Hospital and Professor in the Departments of Pediatrics and Human Genetics at McGill University.

DNA is the blueprint according to which our body is constructed and functions. Cells "read" this blueprint by transcribing the information into RNA, which is then used as a template to construct proteins – the body's building blocks. Genes are scanned based on the association of their RNA with ribosomes – particles in which takes place.

"Until now, researchers have been focusing on the effects of disease-associated genomic variants on DNA-to-RNA transcription, instead of the challenging question of effects on RNA-to-," says Dr. Polychronakos. "Thanks to this methodology, we can now better understand the effect of genetic variants on translation of RNA to protein – a powerful way of developing biomarkers for personalized medicine and new therapies."

Explore further: New method helps link genomic variation to protein production

More information: www.nature.com/ncomms/2013/130731/ncomms3260/full/ncomms3260.html

Related Stories

New method helps link genomic variation to protein production

November 6, 2012

Scientists have adopted a novel laboratory approach for determining the effect of genetic variation on the efficiency of the biological process that translates a gene's DNA sequence into a protein, such as hemoglobin, according ...

Recommended for you

New class of RNA tumor suppressors identified

November 23, 2015

A pair of RNA molecules originally thought to be no more than cellular housekeepers are deleted in over a quarter of common human cancers, according to researchers at the Stanford University School of Medicine. Breast cancer ...

Batten disease may benefit from gene therapy

November 11, 2015

In a study of dogs, scientists showed that a new way to deliver replacement genes may be effective at slowing the development of childhood Batten disease, a rare and fatal neurological disorder. The key may be to inject viruses ...

Molecular clocks control mutation rate in human cells

November 9, 2015

Every cell in the human body contains a copy of the human genome. Through the course of a lifetime all cells are thought to acquire mutations in their genomes. Some of the mutational processes generating these mutations do ...


Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.