Rare Disease Day - exploring one role that LHSC plays in rare diseases

February 28, 2017

Today, the last day of February, marks Rare Diseases Day. For LHSC’s Medical Genetics Program of Southwestern Ontario team, this awareness day is especially significant, as working with patients and families who are impacted by rare disorders is a significant component of what they do every day.

Humans have about 25,000 genes, but to date only several thousand of those genes are known to associate with genetic disorders. There remain many more disorders to be discovered. Continued research in this field is crucial to our ability to understand the functional significance of alterations in our genes.  It is with this knowledge that real differences can be made for those individuals and families dealing with rare disorders.

Fittingly, the theme of this year’s Rare Diseases Awareness day is research; as with research, possibilities are endless. Research is ultimately what leads to the ability to provide a diagnosis and possible treatment for a rare disorder. For many families impacted by a rare disorder, just having a diagnosis can mean that they now have a community of other families to share experiences with. As well, a diagnosis will often provide an idea of what the prognosis may be, and what complications to anticipate, or screen for. It may also provide insight into knowing which other family members having the same diagnosis.  

“Another key benefit is shortening what we refer to as the diagnostic odyssey that is all too frequent with rare disorders,” says Dr. Victoria Siu, Medical Geneticist at LHSC. “Individuals who have a very rare disorder for which the gene has not yet been found may have a long and costly series of consultations and investigations in search of a diagnosis. Once we have identified new genes through research, other families experiencing the same disorder in the future will have a much smoother journey to that diagnosis and may also be able to access treatments that have been targeted toward the impact of the specific genetic change.”

For the past several years, Dr. Siu and her colleagues, Drs. Chitra Prasad, Tony Rupar, and Robert Hegele, have been participating in Care for Rare, a national research initiative focused on finding the genetic cause of rare disorders. Through the use of state-of-the-art testing, they have been able to identify several new genes. A key outcome of research done in a laboratory is to be able to apply the results into medical practice to make a difference in the health of individuals or populations – so-called translational research. 

For example, discoveries made through research at LHSC have led to the ability to provide newborn screening to diagnose babies at risk for rare disorders while they are still healthy, and to initiate treatments that will prevent blindness or delay the need for a kidney transplant. Research done through the cancer genetics service at LHSC has resulted in the development of a clinical screening panel of genes which are associated with rare familial types of cancer. Results of such testing can help to guide the appropriate treatment choice or entry into clinical trials of new medications, but also has implications for understanding the development of common non-inherited cancers.  

Dr. Siu adds, “We cannot underestimate the importance of continued research when it comes to rare disorders. The more knowledge that we have as a community of care providers, the better the outcomes are for individuals and families.”

For more information about Rare Disease Day, visit www.rarediseaseday.org

Medical Genetics Program Team
The team at LHSC’s Medical Genetics Program of Southwestern Ontario plays a significant role in diagnosing and treating rare diseases and disorders.