Uncovering the mysteries behind rare diseases

The first Rare Disease Day was celebrated in 2008 on February 29 because of its ‘rare’ date and since then, occurs on the last day in February each year – a month with a ‘rare’ number of days.

On February 28, 2021, we are spreading awareness about rare diseases and the importance of research about them.

Within the Children’s Hospital Research Institute of Manitoba (CHRIM), several investigators are continuously researching various types of rare diseases to understand any underlying genetic factors and learn which health strategies can be used to reduce their occurrence in future generations.

Rare diseases affect nearly 3 million Canadians. To date, approximately 7,000 rare diseases have been identified and more rare conditions are discovered every year.


So what actually classifies a disease as ‘rare’?

A rare disease is an illness that affects a small percentage of the population, which means further limitations on scientific research, clinical expertise and patient access to effective treatment options. Rare diseases, while individually rare, become quite prevalent when considered together as a group. They affect 1 in 12 or nearly 3 million Canadians. To date, approximately 7,000 rare diseases have been identified and new rare conditions are being discovered each year.

CHRIM scientist, Dr. Michael Charette, an Assistant Professor at Brandon University, joined CHRIM three years ago from a small town in New Brunswick to further his research in rare diseases, specifically looking at the assembly of ribosomes. Ribosomes are more easily described as the tiny machines in all our cells that read our genetic information (through mRNA) and translate it into proteins. These proteins give our cells their shape and allow our bodies to move (think about the proteins that make up our muscles!) and support basic body functions such as digestion. 

The Charette lab, consists of Dr. Charette and three graduate students, three undergraduate research students, and one summer student. Together, they are learning some exciting information about ribosomes that are expressed in rare genetic diseases and cancers due to errors in the assembly of ribosomes. One of the areas they would like to figure out is how cells “turn on” the assembly line that creates ribosomes when the cell decides to grow and needs more ribosomes to make proteins. In childhood growth and development, the “switch” to turn on the ribosome assembly line is turned off once growth is complete. However, in childhood cancer, the switch seems to be stuck in the ‘on’ position, which you can learn more about in this recent article.

Dr. Charette and his lab are highly involved in research about Bowen-Conradi syndrome (BCS), which is a rare genetic disorder that affects many parts of the body and is usually fatal in infancy. Children born with this debilitating disease have a low birth weight, and experience feeding problems that in most cases require a tube. Sadly, most cases of children born with this rare disease will die within the first 2 years of life and those who survive beyond 1 year of age show extreme growth failure.

To date, this condition has only been described in children of Hutterite background but as a group, ribosomopathies are seen worldwide. Their lab is located near the geographic center of Canada, at Brandon University  and is ideal for ribosome assembly and ribosomopathy research as the Canadian Prairies are home to many Hutterite families.

“Studying rare disorders is clearly very important for the families they involve but also provides important opportunities for us to better understand biology in general.” Says Dr. Michael Charette.

 His lab uses a variety of different molecular approaches centered around a common and their personal favorite model organism, yeast! 

Members of the Charette Lab – 2020
Dr. Michael Charette

CHRIM scientists, Drs. Barbara Triggs-Raine, Professor in the Department of Pediatrics and Child Health at the University of Manitoba, and Cheryl Rockman-Greenberg, Distinguished Professor, Department of Pediatrics & Child Health and Department of Biochemistry at the University of Manitoba, first discovered the DNA variant responsible for Bowen-Conradi syndrome in a gene called Emg1. Interestingly, Dr. Charette completed his post-doctoral fellowship in a pioneering lab in the field of ribosomopathies that had previously demonstrated in the early 2000s that the Emg1 protein is part of a very large protein complex (called the SSU processome), that is responsible for most of the assembly of the SSU of the ribosome. It seemed that Dr. Charette and his work in this area coupled with the Manitoban scientists’ discovery, that CHRIM would be the perfect fit to continue his critical work.

“CHRIM’s focus on childhood diseases, demonstrated expertise in rare disease research, and the discovery of the BCS gene variant all contributed to CHRIM being an excellent home for me.”

– Dr. Michael Charette

One of the exciting areas in the study of rare diseases is the potential for new scientific breakthroughs, which can also lead to new treatments for common diseases. If you would like to support research in the area rare diseases, please consider donating to the Children’s Hospital Foundation of Manitoba, CHRIM’s primary funder.