How a new SickKids fellowship is using collaboration to better understand paediatric rare diseases
Rare diseases are conditions that affect less than 1 in 2,000 people. Many are genetic and can sometimes be difficult to recognize and diagnose. Most cause significant disability and make life very challenging for affected children and their families.
Although there are currently only a few rare genetic diseases that can be cured, there is a lot that health-care professionals can do to help and support patients with these conditions. Providing a timely and accurate diagnosis, offering treatments to improve quality of life and making appropriate supports available to families can make a huge a difference for those affected by these conditions.
A lot of rare genetic diseases affect the brain, nerves or muscles. As a paediatric neurologist, it is therefore essential for me to understand the links between neurological disorders and their genetic causes. I chose to pursue more training as the first fellow in the new Clinical and Research Fellowship in Advanced Genomics in Paediatric Rare Disease at SickKids. This unique fellowship will allow me to better understand the process of diagnosis and management of patients with rare disorders. I will be able to apply my combined knowledge of genetics and neurology when evaluating patients. Because information about some rare diseases remains largely unknown, sharing data and resources is very important. Clinical and research work in the field of rare neurogenetic conditions requires collaborative efforts locally, across Canada and even internationally.
As a clinical fellow, my time is primarily spent in various specialized clinics. I learn first and foremost from the families that I meet every day in the hospital. I also have the privilege of learning from a community of staff with experience in a variety of subfields in both Neurology and Genetics. Every day, I collaborate with clinicians directly involved in patient care, experts in clinical laboratories, and scientists from the Research Institute. We all have the same objective: offering the best care possible to children and families living with rare diseases.
Currently, I am investigating the genetic causes of cerebellar atrophy. The cerebellum is the part of the brain that coordinates movement, and in some rare genetic conditions it can become smaller – or atrophied – over time, which can cause difficulty walking or controlling movement. I am also working with another research group in the field of leukodystrophies, which are genetic degenerative diseases that affect the myelin (or white matter) of the brain. Hopefully, my work in the description and characterization of rare neurogenetic diseases will help other clinicians recognize and identify these conditions, and ultimately provide families with answers to questions they may have now or in the future.
Rare diseases are individually uncommon, but collectively frequent. There are over 7,000 different rare genetic conditions. Some of these disorders are so rare that only a handful of children are affected in Canada. It is therefore essential to share expertise and resources between health-care providers, researchers, patient-led groups and rare disease organizations across the country. I am grateful to be able to work with inspiring families and alongside experts in the field. We are all stronger as a team!
Dr. Gauquelin's fellowship in the Centre for Genetic Medicine at SickKids is supported by Can-GARD (Canadian Gene Cure Advanced Therapies for Rare Disease) and the Faculté de Médecine de l’Université Laval.