A team of medical and genetics specialists associated with the Saguenay-Lac-St-Jean health authority recently added 11 rare diseases or conditions to a list of 14 that had already been identified
Quebec’s Saguenay-Lac-St-Jean region is known for its spectacular fjord and rugged outdoor landscapes. But its isolation has also made the region north of Quebec City home to something else: a higher than normal presence of more than two dozen rare genetic diseases, including some whose frequency in the region have recently been measured for the first time.
Their findings were published Feb. 14 in the American Journal of Medical Genetics, under the title, “Portrait of autosomal recessive diseases in the French-Canadian founder population of Saguenay-Lac-Saint-Jean.” But the results of the study, which was a collaboration between medical professionals in a clinical setting and researchers analyzing years worth of genetic data, surprised even the researchers.
That number refers to people who carry the defective genes that cause illness, but who are not necessarily sick themselves.The higher frequency of these rare diseases is the result of a “genetic lottery,” Bouchard said. All of the diseases are recessive – both parents have to be carriers of the defective gene in order for their offspring to have a chance of developing the condition, Bouchard said. A child with two carrier parents has only a 25 per cent chance of developing a disease, meaning that diagnoses are extremely rare even in the region.
Philippines Latest News, Philippines Headlines
Similar News:You can also read news stories similar to this one that we have collected from other news sources.
Researchers track high frequency of genetic diseases in Quebec’s Saguenay-Lac-St-Jean - Montreal | Globalnews.caOne disease — Oculogastrointestinal neurodevelopmental syndrome — is so rare that only 10 people in the world have it, and five of them are in Saguenay-Lac-St-Jean.
Read more »
Key sleep behaviours that could improve life expectancy identified by researchersResearch being presented at an annual event hosted by the American College of Cardiology has revealed five essential sleep habits that have shown to improve longevity in some individuals.
Read more »
Hannah Einbinder Shares Update On ‘Hacks’ Co-Star Jean Smart’s Health Following Heart ProcedureJean Smart's 'Hacks' co-stars are sharing an update on her health following a recent heart procedure. Smart, 71, took to Instagram last week to reveal she'd undergone the successful op. [embed]https://www.instagram.com/p/CpA2LQfprTG/?utm_source=ig_embed&ig_rid=3c5a215a-7b2b-44e4-bb7c-52460b5aafe5[/embed] “She’s doing well,” the actress' co-star Hannah Einbinder told Variety at Sunday's 2023 SAG Awards, adding: “She’s recovering. We just visited her.” [readmore label='READ…
Read more »
CBC’s French TV series Plan B keeps its essence in English do-overCompared to the scrappier approach of the Quebec industry, shooting the English version came with a bigger budget, Quebecois director Jean-Francois Asselin says
Read more »
Editorial | Ontario’s budget should fast-track money for home careOntario’s budget should fast-track money for home care While home care can benefit from more cash, already committed funds can also make an enormous difference — provided they’re put to use properly. StarEditorial
Read more »