Open for Rare Icon

Open for Rare

Hikers holding puzzle pieces with interactions in the sky

Open for Rare is a publicly-available web interface for accessing results of the "Rare Disease Cell Map".



More than 300 million people worldwide suffer from a rare disease. In the USA, a disease is considered rare when it affects less than 200,000 persons, which is the case for more than 6000 diseases and conditions. In Canada, it is estimated that 1 out of 12 people have a rare disease, 50% being children, 30% of which will not live to see their 5th birthday. Patients often report seeing an average of 4 to 7 physicians before being diagnosed, a serious burden to our health care systems.

Approved treatments are available for only 5% of all rare diseases, but the quest for novel drugs has been relatively successful in the past years, more than half of the 59 new drugs approved by the FDA in 2018 being to treat rare diseases. Almost 80% of rare diseases have a genetic origin and previous work from our group and many others has shown that multiple genetic mutations that cause rare diseases act by impairing the interaction of the target gene product with its cognate cell's partners.

To improve our understanding of the mechanisms of rare disease onset/progression and accelerate drug and biomarker discovery, we launched the ambitious initiative to build a cell map consisting of the entire network of protein-protein interactions involving rare disease-causing gene products as well as the effect of causative mutations on network architecture (here called Differential Interactomes; see below for details). This “Rare Disease Cell Map” will reveal the blueprint of the cell's machinery and mechanisms at the origin of rare genetic diseases. We are currently in discussion with international partners, from both the academic and private sectors, to develop a high-profile multidisciplinary research team that will seek for funding to support this ambitious project.



Mapping Differential Interactomes

Mapping differential interactomes induced by genetic disease-causing mutations - Intrduction
Gene expression: From genes to active, regulatable protein complexes
Affinity purification coupled with mass spectrometry
Some mutations interfere with quaternary structure formation
Differential interactomes resulting from genetic mutations

L’Institut de recherches cliniques de Montréal n’est pas responsable du contenu de ce site Web.

The Montreal Clinical Research Institute is not responsible for the content of this website.