Major step to treat a rare syndrome

Photo courtesy
Nicolas Pilon, Researcher

Antoine Lacroix

Saturday, 13 January, 2018 19:37

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Saturday, 13 January, 2018 19:37

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A “major discovery” made by researchers from UQAM, could contribute to faster processing of children with a rare syndrome that causes including heart defects and developmental delays.

“This discovery is a hope for the patients affected by the syndrome DEPENDENT and their families. In addition to having identified a new gene that is as yet unknown, we also found a molecule that could be a track to develop a therapy, ” says professor Nicolas Pilon, a professor in the Department of biological sciences and holder of the research Chair, UQAM rare genetic diseases.

The CHARGE is described as a set of serious congenital anomaly that affects about one newborn in 10,000. It is characterized by problems of blindness, heart defects, growth retardation and/or mental, genital anomalies, and ear-level. These are 30 % of children who die before the age of 5 years.

Earlier diagnosis

“It is something that is very complex and little known. The screening is also difficult because a large number of anomalies must be considered, but does not depend on the presence of all the features. The genes associated with this syndrome are not all known, ” says professor Pilon.

He adds that a diagnosis issued earlier can improve the quality of life of people affected by ensuring that their anomalies are dealt with more quickly. There is currently no possibility of healing for the CHARGE.

The discovery is the result of more than three and a half years of work and has been made possible by ” using a genetic screen in the mouse “, explains Nicolas Pilon.

Before the research conducted by the professor and his team, notably composed of the phd student in biochemistry Catherine Bélanger and postdoc Félix-Antoine Bérubé-Simard, a single gene mutation related to the syndrome CHARGE was known.

With the help of DNA testing on patients with CHARGE who do not possess the mutation of the first gene known, he was able to validate his discovery of a new gene.

Therapy possible ?

The research revealed a “molecular mechanism for previously unsuspected” that would be involved in the CHARGE.

“There are still a lot of work to confirm all of this, but everything would indicate that the use of the molecule discovery would correct anomalies. It could have an enormous impact in the field of rare diseases “, says professor Nicolas Pilon.