Rare Diseases: An ongoing and under-recognized global health concern

Today is Rare Disease Day. The term rare disease is misleading. There are more than 7,000 known rare diseases that affect more than 300 million people worldwide.

Lack of public awareness and medical knowledge has led to a significant under recognition of the burden these diseases have on our health systems and the lives of those living with these conditions.

Children are most affected by rare diseases

• 1 in 40 children are born with a rare disease
• half of these children will not reach adulthood
• 80% of these diseases are inherited from parents and are caused by a mutation in a single gene in the genome (an individual's complete set of genetic instructions)

The high number of children with rare diseases in hospitals, delayed diagnosis, lack of scientific understanding, lack of accessible therapies, and unequal access to diagnostics are all factors that contribute to the burden of these diseases on patients, their families, and our society.

Diagnosis struggles and genomics

On average, it takes five to seven years to accurately diagnose a rare disease. During this time, patients undergo numerous consultations with specialists at a cost of nearly $20,000, as well as unnecessary tests and procedures.

These diagnostic challenges may be at least partially overcome by the latest advances in genomics (the study of all the genes in the human body) and technologies.

It started with the first complete sequence of the human genome in 2003, which allowed us to examine a person's complete genetic information and find gene variants that cause inherited diseases. With technology for sequencing rapidly advancing, this process can now be done in less than a day, leading to a faster and more cost-effective diagnosis.

How is the CIHR Institute of Genetics helping?

The CIHR Institute of Genetics supports Canadian research initiatives on rare diseases through:

• investing in genomic research and the development of therapies for rare inherited diseases;
• establishing partnerships with national and international organizations; and
• promoting patient engagement and equity, diversity, and inclusion in Canadian genetic and genomic research.

We are launching the Pan-Canadian Human Genome Library to enable researchers across Canada to access and analyze the genomes and associated health and environmental information of diverse Canadian populations. We also recently participated in developing guidelines to present a standardized approach for obtaining patient consent for participating in human genomics research.

Date modified:

2023-02-27