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A new genetic defect found in Inuit ancestry in Greenland, Canada and Alaska could lead to screening all newborn Inuit who would otherwise be at risk of dying from childhood vaccines or simple viral infections
The genetic defect was discovered in close collaboration between researchers at Aarhus and Newcastle Universities, as well as pediatricians and clinical immunologists in Denmark, Greenland, Alaska and Montreal, Canada
For weeks, Rigshospitalet's doctors struggled to diagnose the condition of a 22-month-old Greenland baby
Terreen Hellup Mogensen's team has extensive expertise in diagnosis through whole-genome sequencing, a method in which researchers map a person's entire genome from laboratory analysis of blood or tissue
The results of the analysis of the child's genome were surprising
Must not lead to hesitation about vaccines
"We did whole-genome sequencing and it showed a defect in the IFNAR2 gene
The researchers analyzed the patients' cells and infected them with the herpes and measles viruses
Trine Hyrup Mogensen's team reached out to colleagues in Newcastle who are also investigating genetic defects in the immune system
The British researchers focused on children from Alaska and Canada
"These children died or became seriously ill two to three weeks after contracting COVID-19, the flu, or the MMR vaccine
"The new mutation was not classified as causative, but it was clearly a genetic defect," she explained
The next step is to examine the frequency of serious defects, which is possible, in collaboration with the University of Copenhagen, which has a biobank containing blood samples from 4,600 Greenlanders
This has led to a research effort and a preventive action to protect Inuit families from genetic defects and severe viral infections
“This finding means that screening should be done
death can be avoided
"This genetic defect is very common in the population and we were able to publish this study and hope to make a difference for many families
The researchers are currently applying the heel-prick test for all Greenland newborns, just like Danish newborns, 2-3 days after birth
.
“In collaboration with Rigshospitalet paediatricians, we are ready to analyze heel prick test samples once we get the green light
.
If all goes well, we will be licensed within 6 months and the new guidelines will be in Be ready in a year," says Trine Hyrup Mogensen
.
The Inuit are the common name of some Arctic peoples who inhabit Greenland, Canada and Alaska
.
Trine Hyrup Mogensen doesn't know why this genetic defect is common here and not in Europe or the United States
.
She said: "The Inuit of Greenland originated in northern Alaska more than a thousand years ago, and genes from that period must have been selected in distant societies, probably because they were protective and therefore beneficial against other diseases.
.
"
"Children who are currently dying in these areas are more likely to die from severe viral infection after natural infection, or to receive live attenuated vaccines due to genetic defects
.
"
The study was published in the Journal of Experimental Medicine
.
Provided by Aarhus University
