Genetic discovery could be 'tip of the iceberg' to better understand lung disease among Inuit | Canada News Media
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Genetic discovery could be ‘tip of the iceberg’ to better understand lung disease among Inuit

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In his years as a pediatric respirologist at CHEO, Dr. Tom Kovesi had cared for many children with severe respiratory illnesses. But one patient stood out.

Kovesi, who is also an investigator with the CHEO Research Institute, had been following the Inuk girl from Nunavut since she was a baby. CHEO is the tertiary centre for children from Nunavut. She had struggled through recurring bouts of severe pneumonia and serious ear infections.

Her condition was so severe that it was consistent with the rare disease known as primary cilliary dyskinesia, or PCD, which Kovesi describes as a “cousin” of cystic fibrosis. But the belief had always been that Inuit populations, which have among of the highest rates of lung disease in the world, did not have PCD.

That belief was based on previous research using less advanced diagnostic techniques than are currently available. In search of more information about her illness, Kovesi used an electron microscope to determine whether she had PCD, but the results were normal. Not satisfied, he tried genetic testing and that is where he found an answer: a never-before-discovered gene variant that causes PCD. He repeated the test at a second lab to be certain.

Once she was given treatment for PCD, her condition began to stabilize. The girl from Nunavut became Patient Zero for a new discovery that could have profound implications for treatment and better understanding of lung disease among members of the Inuit populations in Canada and elsewhere.

Genetic testing on other Inuit patients found others with the genetic marker for PCD.

Meanwhile, Dr. Adam Shapiro, an investigator in the Child Health and Human Development Program at the research institute of McGill University and a pediatric respirologist at Montreal Children’s Hospital, also found the gene variant in some patients.

Kovesi and Shapiro are co-senior authors of a paper published in the journal Pediatric Pulmonology that reports on seven Inuit patients with PCD identified through genetic testing.

The findings, in a gene called DNAH11 in Inuit individuals from both Nunavik in northern Quebec and Nunavut, suggest that the disease may be “quite common among Inuit and may be an important cause of lung disease in this population,” said Kovesi.

The research should lead to routine testing for Inuit with recurrent pneumonia and/or chronic lung disease to determine whether they have PCD, the authors wrote. Kovesi also said routine newborn screening for PCD through genetic analysis should be considered in Inuit regions.

Diagnosing PCD is important, Kovesi said, because treatments — similar to therapies to treat cystic fibrosis — are available. Treatment includes daily airway clearance and the use of antibiotics to prevent infections, among other things.

Primary ciliary dyskinesia, or PCD, is a rare disease that affects the tiny, hair-like structures (cilia) that line the airways. Cilia move together in wavelike motions. That motion carries mucus toward the mouth or nose to be coughed or sneezed out of the body.

But in patients with PCD, cilia do not work the same way to move mucus out of the body, which can cause breathing problems and recurrent infections.

PCD affects about one in 20,000 Canadians, but in Inuit populations, that number is estimated to be closer to one in 1,400, although more research is needed, say the authors of the paper.

Inuit populations have high rates of lung disease, including the highest known rates of respiratory syncytial virus (RSV) for children in the first year of life and high rates of tuberculosis.

“We see so much lung disease in the Inuit and it is so severe, it is disproportionate,” said Shapiro.

The genetic findings do not explain all of the lung disease in the Inuit population, he said, “but it explains some of it.”

Other key factors contributing to lung disease in Inuit populations include crowded and poorly ventilated housing and poverty.

Shapiro noted that out of 40 children being followed at Montreal Children’s Hospital for severe chronic lung disease, the majority do not have PCD.

Both Shapiro and Kovesi said more work needs to be done, not only to treat patients, but to better understand the genetic causes of chronic lung disease.

“I think this is the tip of the iceberg,” said Shapiro. “It will open the floodgates for more genetic work.”

Kovesi said better understanding of the prevalence of PCD caused by genetic variants in the gene DNAH11 and possibly other genes in the Inuit population will require more research. The work, he said, is an important step “towards improved delivery of care to affected Inuit families.”

onlinelibrary.wiley.com/doi/10.1002/ppul.26414

 

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Canada to donate up to 200,000 vaccine doses to combat mpox outbreaks in Africa

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The Canadian government says it will donate up to 200,000 vaccine doses to fight the mpox outbreak in Congo and other African countries.

It says the donated doses of Imvamune will come from Canada’s existing supply and will not affect the country’s preparedness for mpox cases in this country.

Minister of Health Mark Holland says the donation “will help to protect those in the most affected regions of Africa and will help prevent further spread of the virus.”

Dr. Madhukar Pai, Canada research chair in epidemiology and global health, says although the donation is welcome, it is a very small portion of the estimated 10 million vaccine doses needed to control the outbreak.

Vaccine donations from wealthier countries have only recently started arriving in Africa, almost a month after the World Health Organization declared the mpox outbreak a public health emergency of international concern.

A few days after the declaration in August, Global Affairs Canada announced a contribution of $1 million for mpox surveillance, diagnostic tools, research and community awareness in Africa.

On Thursday, the Africa Centres for Disease Control and Prevention said mpox is still on the rise and that testing rates are “insufficient” across the continent.

Jason Kindrachuk, Canada research chair in emerging viruses at the University of Manitoba, said donating vaccines, in addition to supporting surveillance and diagnostic tests, is “massively important.”

But Kindrachuk, who has worked on the ground in Congo during the epidemic, also said that the international response to the mpox outbreak is “better late than never (but) better never late.”

“It would have been fantastic for us globally to not be in this position by having provided doses a much, much longer time prior than when we are,” he said, noting that the outbreak of clade I mpox in Congo started in early 2023.

Clade II mpox, endemic in regions of West Africa, came to the world’s attention even earlier — in 2022 — as that strain of virus spread to other countries, including Canada.

Two doses are recommended for mpox vaccination, so the donation may only benefit 100,000 people, Pai said.

Pai questioned whether Canada is contributing enough, as the federal government hasn’t said what percentage of its mpox vaccine stockpile it is donating.

“Small donations are simply not going to help end this crisis. We need to show greater solidarity and support,” he said in an email.

“That is the biggest lesson from the COVID-19 pandemic — our collective safety is tied with that of other nations.”

This report by The Canadian Press was first published Sept. 13, 2024.

Canadian Press health coverage receives support through a partnership with the Canadian Medical Association. CP is solely responsible for this content.

The Canadian Press. All rights reserved.

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How many Nova Scotians are on the doctor wait-list? Number hit 160,000 in June

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HALIFAX – The Nova Scotia government says it could be months before it reveals how many people are on the wait-list for a family doctor.

The head of the province’s health authority told reporters Wednesday that the government won’t release updated data until the 160,000 people who were on the wait-list in June are contacted to verify whether they still need primary care.

Karen Oldfield said Nova Scotia Health is working on validating the primary care wait-list data before posting new numbers, and that work may take a matter of months. The most recent public wait-list figures are from June 1, when 160,234 people, or about 16 per cent of the population, were on it.

“It’s going to take time to make 160,000 calls,” Oldfield said. “We are not talking weeks, we are talking months.”

The interim CEO and president of Nova Scotia Health said people on the list are being asked where they live, whether they still need a family doctor, and to give an update on their health.

A spokesperson with the province’s Health Department says the government and its health authority are “working hard” to turn the wait-list registry into a useful tool, adding that the data will be shared once it is validated.

Nova Scotia’s NDP are calling on Premier Tim Houston to immediately release statistics on how many people are looking for a family doctor. On Tuesday, the NDP introduced a bill that would require the health minister to make the number public every month.

“It is unacceptable for the list to be more than three months out of date,” NDP Leader Claudia Chender said Tuesday.

Chender said releasing this data regularly is vital so Nova Scotians can track the government’s progress on its main 2021 campaign promise: fixing health care.

The number of people in need of a family doctor has more than doubled between the 2021 summer election campaign and June 2024. Since September 2021 about 300 doctors have been added to the provincial health system, the Health Department said.

“We’ll know if Tim Houston is keeping his 2021 election promise to fix health care when Nova Scotians are attached to primary care,” Chender said.

This report by The Canadian Press was first published Sept. 11, 2024.

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Newfoundland and Labrador monitoring rise in whooping cough cases: medical officer

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ST. JOHN’S, N.L. – Newfoundland and Labrador‘s chief medical officer is monitoring the rise of whooping cough infections across the province as cases of the highly contagious disease continue to grow across Canada.

Dr. Janice Fitzgerald says that so far this year, the province has recorded 230 confirmed cases of the vaccine-preventable respiratory tract infection, also known as pertussis.

Late last month, Quebec reported more than 11,000 cases during the same time period, while Ontario counted 470 cases, well above the five-year average of 98. In Quebec, the majority of patients are between the ages of 10 and 14.

Meanwhile, New Brunswick has declared a whooping cough outbreak across the province. A total of 141 cases were reported by last month, exceeding the five-year average of 34.

The disease can lead to severe complications among vulnerable populations including infants, who are at the highest risk of suffering from complications like pneumonia and seizures. Symptoms may start with a runny nose, mild fever and cough, then progress to severe coughing accompanied by a distinctive “whooping” sound during inhalation.

“The public, especially pregnant people and those in close contact with infants, are encouraged to be aware of symptoms related to pertussis and to ensure vaccinations are up to date,” Newfoundland and Labrador’s Health Department said in a statement.

Whooping cough can be treated with antibiotics, but vaccination is the most effective way to control the spread of the disease. As a result, the province has expanded immunization efforts this school year. While booster doses are already offered in Grade 9, the vaccine is now being offered to Grade 8 students as well.

Public health officials say whooping cough is a cyclical disease that increases every two to five or six years.

Meanwhile, New Brunswick’s acting chief medical officer of health expects the current case count to get worse before tapering off.

A rise in whooping cough cases has also been reported in the United States and elsewhere. The Pan American Health Organization issued an alert in July encouraging countries to ramp up their surveillance and vaccination coverage.

This report by The Canadian Press was first published Sept. 10, 2024.

The Canadian Press. All rights reserved.

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