Taking on inherited disease, together: Sequence Bio launches multi-disease genetic research study in Newfoundland and Labrador

March 4, 2026

taking on inherited disease, together: sequence bio launches multi-disease genetic research study in newfoundland and labrador

Sequence Bio, in partnership with Newfoundland and Labrador Health Services (NL Health Services), is proud to announce the launch of the Study of Genetic Causes of Inherited Disease in Newfoundland and Labrador. This study aims to uncover how heritable diseases known to occur in NL, such as psoriatic arthritis and early-onset cancers, are passed through generations with the ultimate goal of discovering and developing new ways to diagnose and treat these diseases. 

Unlike previous studies focused on a single condition, this project addresses an array of therapeutic areas simultaneously, reflecting both the diverse landscape of inherited diseases in the province and depth of multi-generational family health histories.

"Due to well-established ‘founder effects,’ we believe the population harbours novel genetic variants that explain why certain inherited diseases present at higher rates here, or differ in age of onset and severity, compared to other populations," said Dr. Tom Barber, the study's Principal Investigator and Sequence Bio's Chief Scientific Officer. “By identifying and tracing specific genetic variants as they are passed down through multiple generations of a family, we can filter out the 'noise' found in other studies and potentially identify novel drug targets and therapeutic approaches with a much higher degree of confidence.”

NL Health Services serves as the primary study site and clinical research partner, with a team of researchers, clinicians, and specialists providing direct support to Sequence Bio for this study. 

“NL Health Services is committed to creating a health-care system that embraces research so that we can provide the best possible care to patients, clients and long-term care residents. Research and innovation provide us with key insights into how to improve health outcomes while at the same time, creating equitable and sustainable clinical care across the province,” said Liam Kelly, Provincial Director of Research and Innovation with NL Health Services. “This collaboration helps research remain grounded in the local clinical environment while pursuing scientific advancements that benefit Newfoundlanders and Labradorians.”

Information for Participants and Medical Professionals

The project is currently seeking participants who have been diagnosed with an inherited disease of study, as well as their affected and unaffected family members. To be eligible, individuals must be 18 years of age or older, hold an active MCP number, and have a health-care provider.

Newfoundland and Labrador-based medical professionals are also encouraged to engage with the study as potential collaborators. Medical professionals play a vital role in this research by identifying eligible families and referring patients who are interested in taking part.

To learn more, visit research.sequencebio.com or contact the study team directly at 709-800-2748.

About the Study of Genetic Causes of Inherited Disease in Newfoundland and Labrador

The Study of Genetic Causes of Inherited Disease in Newfoundland and Labrador is sponsored by Sequence Bio and conducted in partnership with NL Health Services as the study’s primary study site and clinical research partner. 

Led by Principal Investigator Dr. Tom Barber, this research aims to uncover potential genetic links to disease that may go undetected in other populations and are important to the discovery and development of new medicines for people everywhere. 

About Sequence Bio

Sequence Bio is researching the genetic characteristics of the Newfoundland and Labrador founder population to identify and validate novel drug targets, helping to accelerate the discovery of new treatments for diseases with high unmet medical need. Sequence Bio is proudly based in St. John’s, Newfoundland and Labrador.

About NL Health Services

Newfoundland and Labrador (NL) Health Services is responsible for delivering quality health care to approximately 546,000 Newfoundlanders and Labradorians. The provincial health authority is supported by over 23,000 employees and physicians who together work to improve the health and well-being of every person, in every community. Guided by the vision of Health Accord NL, NL Health Services offers a comprehensive range of health-care programs and services through a wide network of facilities, clinics, and community services across five zones: Central, Eastern-Rural, Eastern-Urban, Labrador-Grenfell, and Western.