Rare diseases are often thought of as isolated and uncommon- but when considered together, they affect a significant number of children and families. Among these conditions are inborn errors of immunity (IEI): a rapidly expanding group of rare, genetic disorders that impact how the immune system functions.

For CHRIM researcher and pediatric immunologist, Dr. Tamar Rubin, rare disease research isn’t just an academic pursuit—it’s deeply connected to clinical care, advocacy, and improving outcomes for families across the country.

Much of Dr. Rubin’s research and clinical work surrounds inborn errors of immunity or IEIs. These genetic conditions are caused by single-gene defects that disrupt immune function. There are more than 550 distinct genetic IEIs that have been identified. While each condition is rare on its own, collectively they affect 30,000 Canadians.

Some of her research related to IEIs has included collaboration to develop and evaluate a newborn screening program for immunodeficiency in Manitoba that also tests for some unique and rare IEIs that specifically impact our provincial population. This program is a first in Canada and the world, in that it is population-specific and includes targeted genetic-based testing at birth for locally relevant genetic diseases. The goal is to identify and treat babies before they become sick because of their condition.

“We have learned that Canada (and especially Manitoba and our catchment areas of Northwestern Ontario and parts of Nunavut) are home to a unique population, with a higher frequency of IEI compared to reported rates in North America,” says Dr. Rubin.

She has been working closely with colleagues from Clinical Immunology Network Canada (CINC) to develop a national Canadian inborn errors of immunity registry. The registry will house information on all infants, children, and adults with IEIs across the country. It will enable researchers to collect baseline demographic, clinical, genetic, and quality of life information as well as prospective clinical and quality of life data on an annual basis. The registry will also focus on best practices for rare disease registries, sharing governance structure and policies as well as publishing the data model on an open-access repository. Once operational, it will improve care for families and patients living with IEI.

As Canada continues to strengthen national collaboration and invest in innovative research, the future for individuals living with inborn errors of immunity is brighter than ever, Dr. Rubin says.