UNDERSTANDING THE GENE

UNDERSTANDING THE EFFECT OF GENE ON HUMAN TRAIT

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 protein synthesis 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-protein translation," 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."