About the data and tissue bank

A rare disease is one that is found in less than one person in 2 000. There are more than 5 000 of these syndromes and around 900 of them have some sort of craniofacial manifestation. More specifically, over 750 syndromes are associated with a cleft lip and/or a cleft palate.

The goal is to create a data and tissue bank of rare syndromes with oral manifestations. The data bank will serve in the future as an important tool for many other multidisciplinary studies that will focus on identifying causative genes. This will facilitate the diagnosis and will help understand the genetic and biological components of the diseases. The end goal: a better care for the patient. This adapted and focused care will consist of a complete maxillofacial examination, a genetic investigation, an analysis of oral imaging, followed by interventions from the appropriate specialists and an early diagnosis. The early diagnosis will help determine the appropriate prevention strategies to improve the patient’s esthetic and function. It will also allow the patient to better understand their condition in order to preserve their dentition as long as possible. There does not currently exist such a data and tissue bank in Québec, hence, it’s necessity.

In Québec, there is a large portion of the population that is diagnosed with a rare genetic disorder. It is currently estimated that one in 15 Quebecers will develop a rare disease (6.67% of the population). Of these disorders, 80% are transmitted genetically and the other 20% are acquired.

Many of these syndromes (about 900) have oral manifestations that are either part of the syndrome or result as a complication of the syndrome itself or of it's treatment. A dentist's role can be very important since they are usually they first ones to observe the symptoms and can help in the diagnosis. Many of these patients will need to be followed closely by a dentist for the appropriate treatment.

There are many challenges that patients diagnosed with a rare disease must deal with. Here are some examples of challenges that most patients must face. First of all, the diagnosis of the disease is difficult and can sometimes take a long time because the diseases are complex and rare. A patient can live a long time without knowing their diagnosis. Many social problems come alongside the disease because they are often chronic and disabling. The treatments are mostly non-existant due to a very limited market and a lack of interest and financing. Furthermore, there are a limited amount of centers that treat these patients, they are often referred to a more specialized center where the waitlists can be quite long. Overall, these diseases are very complex, they often involve many systems of the body, and therefore, require a multidisciplinary approach.

With a better genetic and biological understanding of these rare disorders due to this data and tissue bank, the diagnosis and treatment of the patients can be greatly improved. Currently, there is no such data bank in Québec.