Navigation Links
Serendipity leads to lifesaving discovery

About two years ago, Dr. Philippe Gros, a McGill University professor in the Department of Biochemistry and a Principal Investigator in thd McGill Life Sciences Complex, described a mouse mutant that was immunodeficient and hypersensitive to the Bacille Calmette-Gurin (BCG) vaccine and to tuberculosis (TB). In this model, Gros's team had found that the immunodeficiency was caused by a mutation in a regulatory protein of the immune system named IRF8.

A year later, a physician in Newcastle who had heard about Gros's work, contacted him about a three-month-old patient who was gravely ill and dying. The infant was suffering from an infection following a perinatal BCG vaccination. She had been treated aggressively with antibiotics but relapsed with additional infections. In addition, she showed a complete absence of circulating monocytes and dendritic cells in her blood two critically important types of immune cells. She was admitted into an ICU and it seemed nothing could be done to save her.

The clinical aspects of the infant's immuno-deficiency were so strikingly similar to those of Gros's earlier mouse model findings, that his research team investigated the human IRF8 gene for the presence of mutations in this infant. Dr. Gros group also examined IRF8 in a number of additional clinical cases of disseminated BCG infection following vaccination.

What they found were two distinct disease-causing mutations one that causes the severe reaction seen in the infant (autosomal recessive) and requires stem cell transplantation, and the other that causes a milder form of disease (autosomal dominant).

These findings, recently published in the New England Journal of Medicine, point to a critical role for IRF8 in the development and function of monocytes and dendritic cells and in protecting against mycobacterial infections like TB in humans.

According to Gros, the best part of this story is that the infant received the much needed stem cell transplant that ultimately cured her. Based on the team's research, her doctors were going to transplant her with one of the parents' cells as they were found to be a perfect match. However, when the team learned that the father was carrying one copy of the dysfunctional gene, and knowing that such a situation is deleterious in mice, the physicians opted instead to graft her with an unrelated donor.

"I think this is a great example of the 'discovery pipeline' we have tried to set up at the Complex Traits Group lab," said Gros. "This began as basic research. It evolved from genetic discoveries in mouse models through to validation in humans and knowledge translation to a positive clinical outcome."

"This is archetypal translational research," said Dr. Richard I. Levin, Vice-Principal of Health Affairs and Dean of Medicine at McGill. "When results from lab work conducted in the Life Sciences Complex can be shared across the ocean in context and in time to save a child's life, we know our objectives are being fulfilled."


Contact: Allison Flynn
McGill University

Related biology news :

1. ISU research leads to understanding of how crops deal with stress -- yields biggest enemy
2. Food safety study of beef trim leads to ongoing research collaboration
3. New leads on the causes of alcoholism
4. Jan-Åke Gustafsson leads team with $5.2M for prostate cancer research
5. MU researcher leads new $6.6 million study that could lead to better corn plants
6. UF Pine lsland pollen study leads to revision of states ancient geography
7. Relaxation leads to lower elasticity
8. Pollution with antibiotics leads to resistant bacteria
9. Pheromone increases foraging honey bees, leads to healthier hives
10. Massive Daphnia genome leads to understanding gene-environment interactions
11. Manchester leads green chemical training push
Post Your Comments:
(Date:11/10/2015)... 10, 2015  In this report, the ... of product, type, application, disease indication, and ... report are consumables, services, software. The type ... biomarkers, efficacy biomarkers, and validation biomarkers. The ... diagnostics development, drug discovery and development, personalized ...
(Date:11/2/2015)... 2, 2015  SRI International has been awarded a ... development services to the National Cancer Institute (NCI) PREVENT ... scientific expertise, modern testing and support facilities, and analytical ... and toxicology studies to evaluate potential cancer prevention drugs. ... PREVENT Cancer Drug Development Program is an NCI-supported pipeline ...
(Date:10/29/2015)... Oct. 29, 2015  Connected health pioneer, Joseph ... explosion of technology-enabled health and wellness, and the business ... The Internet of Healthy Things . ... smartphones even existed, Dr. Kvedar, vice president, Connected Health, ... care delivery, moving care from the hospital or doctor,s ...
Breaking Biology News(10 mins):
(Date:11/25/2015)... , November 26, 2015 ... Biobanking Market 2016 - 2020 report analyzes that ... integrity and quality in long-term samples, minimizing manual ... cost-effectiveness. Automation minimizes manual errors such as mislabeling ... efficiency. Further, it plays a vital role in ...
(Date:11/25/2015)... Studies reveal the differences in species of bacteria ... for more effective treatment for one of the most commonly ... --> --> Gum disease is one ... relatively little was understood about the bacteria associated with it ... researchers from the WALTHAM Centre for Pet Nutrition together with ...
(Date:11/25/2015)... CITY , Nov. 25, 2015 /PRNewswire/ - Aeterna ... affirms that its business and prospects remain fundamentally ... , Zoptrex™ (zoptarelin doxorubicin) recently received DSMB recommendation ... to completion following review of the final interim ... Phase 2 Primary Endpoint in men with heavily ...
(Date:11/25/2015)... 25, 2015 The Global ... a professional and in-depth study on the current ... (Logo: ) , The ... including definitions, classifications, applications and industry chain structure. ... international markets including development trends, competitive landscape analysis, ...
Breaking Biology Technology: