Montreal, September 10, 2010 – A team of investigators at the Sainte-Justine University Hospital Center has just obtained support from March of Dimes, a major American foundation, which will allow them to evaluate the efficacy of a novel gene sequencing approach in patients who present with developmental abnormalities, including malformations and intellectual disability.

Malformations are a major cause of infantile mortality and have a significant impact on the healthcare system. While intellectual disability represents the most frequent severe handicap in children, the genetic factors implicated in this pathology are still poorly understood.

Until now, the identification of genes associated with developmental abnormalities has called for genetic approaches involving large patient cohorts. Today, new and very powerful sequencing technologies are revolutionizing this type of exploration making it possible to analyze the entire genome of a single individual. Therefore, the study undertaken by the team led by Dr. Jacques Michaud, the study’s principal investigator and a physician and developmental biologist at Sainte-Justine University Hospital Center’s Department of Medical Genetics as well as a professor at the Faculty of Medicine of University of Montreal, should make it possible to identify the mutations responsible for developmental abnormalities. The study will focus on patients from consanguineous families who are more at risk of being carriers of certain types of mutations.

The multidisciplinary research team brings together the expertise of Dr.Michaud, Dr. Zoha Khibar, a specialist in genetics and the molecular biology of malformations, Dr. Mark Samuels, a specialist in the genetic analysis of the human genome and Dr. Philip Awadalla, an expert in human population genomics.

“The links that we are able to make between genetic mutations and developmental abnormalities will enable us to better understand the causes of these pathologies and pave the way toward developing better diagnostic and treatment methods,” says Dr. Michaud.

The mission of the March of Dimes Foundation is to improve child health by preventing prematurity, infant mortality and problems that occur at birth.