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Gene therapy gives life to child with rare genetic disorder in major medical breakthrough

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Doctors and researchers at a children’s hospital in Canada have struck a rare success after gene therapy halted the progression of rare genetic condition in a young boy.

The boy, identified as Michael, reportedly received an individualised gene therapy at The Hospital for Sick Children (SickKids) in March 2022. Michael has spastic paraplegia type 50 (SPG50).

It is an “ultra-rare” progressive neurodegenerative disorder that causes developmental delays, speech impairment, seizures, a progressive paralysis of all four limbs, and is typically fatal by adulthood.

Also watch | India’s homegrown, low-cost Car-T cell therapy | The race to cure Cancer

According to the findings of Michael’s gene therapy published in the Nature journal, approximately 80 children around the world are affected by this genetic condition.

SPG 50 gene therapy treatment: What did scientists do?

In a bid to slow the progression of the condition, a clinical research team at SickKids administered a first single-patient gene therapy to Michael less than three years after his initial diagnosis, according to a report in the Medical Express.

What is gene therapy?

Gene therapy is a way of delivering a healthy copy of a gene into the cells of a person who has a faulty gene(s). In Michael’s case, SPG50 is caused by two pathogenic variants in a gene called AP4M1.

“While these ultra-rare diseases are unique, our workflow provides a road map for gene therapies that could help many of the thousands of children in Canada with rare genetic conditions,” Dr Jim Dowling, Staff Physician in the Division of Neurology and Senior Scientist in the Genetics & Genome Biology program at SickKids, was quoted as saying by the Medical Express.

During the gene therapy, Michael was able to stand with his heels on the ground. He also experienced improvements in some aspects of his neurodevelopment.

“When we heard that Michael had been diagnosed with this terrible disease, our world fell apart. We were lost and broken as a family,” Michael’s parents, Terry and Georgia told Medical Express.

“Thankfully, we had an amazing team at SickKids and a supportive community that lifted us up and gave us the confidence to raise millions of dollars and create a therapy, not only for Michael, but for other children affected by this disease for generations to come.”

(With inputs from agencies)

 

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Tips for shopping for Medicare Advantage plans

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Shopping season for Medicare coverage is about to begin. With it comes the annual onslaught of TV ads and choices to consider.

People eligible for the federal government’s Medicare program will have from Oct. 15 to Dec. 7 to sign up for 2025 Medicare Advantage plans, which are privately run versions of the program. They also can add a prescription drug plan to traditional Medicare coverage.

Many people on Medicare Advantage plans will probably have to find new coverage as major insurers cut costs and pull back from markets. Industry experts also predict some price increases for Medicare prescription drug plans.

Shoppers often have dozens of options during this sign-up period. Here are some things to consider.

Don’t put off shopping for Medicare coverage

Start thinking about next year’s coverage before the annual enrollment window begins. Insurers will usually preview their offerings or let customers know about any big changes. That makes anything arriving in the mail from your insurer important to read.

Insurance agents say many people wait until after Thanksgiving to decide coverage plans for the new year. That could be a mistake this year: The holiday falls on Nov. 28, leaving slightly more than a week to decide before the enrollment window closes.

Look beyond the premium

Many Medicare Advantage plans promote a $0 premium. That may sound attractive, but price is only one variable to consider.

Shoppers should look at whether their doctors are in the plan’s coverage network and how prescriptions would be covered. They also should know the maximum amount under the plan that they’d have to pay if a serious health issue emerges.

Plans offer many supplemental benefits, including help paying food or utility bills. Don’t let those distract from understanding the core coverage, said Danielle Roberts, co-founder of the Fort Worth, Texas, insurance agency Boomer Benefits.

“Remember that we buy health insurance for the big things, not the frills,” she said.

How to get help shopping for plans

The federal government operates a plan finder that lets people compare options. The State Health Insurance Assistance Program can be another resource. Insurance brokers or agents also guide customers through searches.

Sometimes a plan’s coverage doesn’t work as expected. If that happens, there’s another enrollment window in the first three-months of each year where some shoppers may be able to make a change.

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The Associated Press Health and Science Department receives support from the Howard Hughes Medical Institute’s Science and Educational Media Group. The AP is solely responsible for all content.

The Canadian Press. All rights reserved.

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The US is mailing Americans COVID tests again. Here’s how to get them

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WASHINGTON (AP) — Americans can once again order COVID-19 tests, without being charged, sent straight to their homes.

The U.S. government reopened the program on Thursday, allowing any household to order up to four at-home COVID nasal swab kits through the website, covidtests.gov. The tests will begin shipping, via the United States Postal Service, as soon as next week.

The website has been reopened on the heels of a summer COVID-19 virus wave and heading into the fall and winter respiratory virus season, with health officials urging Americans to get an updated COVID-19 booster and their yearly flu shot.

“Before you visit with your family and friends this holiday season, take a quick test and help keep them safe from COVID-19,” U.S. Health and Human Services Assistant Secretary for Preparedness and Response Dawn O’Connell said in a statement.

U.S. regulators approved an updated COVID-19 vaccine that is designed to combat the recent virus strains and, they hope, forthcoming winter ones, too. Vaccine uptake is waning, however. Most Americans have some immunity from prior infections or vaccinations, but under a quarter of U.S. adults took last fall’s COVID-19 shot.

Using the swab, people can detect current virus strains ahead of the fall and winter respiratory virus season and the holidays. Over-the-counter COVID-19 at-home tests typically cost around $11, as of last year. Insurers are no longer required to cover the cost of the tests.

Before using any existing at-home COVID-19 tests, you should check the expiration date. Many of the tests have been given an extended expiration from the date listed on the box. You can check on the Food and Drug Administration’s website to see if that’s the case for any of your remaining tests at home.

Since COVID-19 first began its spread in 2020, U.S. taxpayers have poured billions of dollars into developing and purchasing COVID-19 tests as well as vaccines. The Biden administration has given out 1.8 billion COVID-19 tests, including half distributed to households by mail. It’s unclear how many tests the government still has on hand.

The Canadian Press. All rights reserved.

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Free COVID tests are back. Here’s how to order a test to your home

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WASHINGTON (AP) — Americans can once again order free COVID-19 tests sent straight to their homes.

The U.S. government reopened the program on Thursday, allowing any household to order up to four at-home COVID nasal swab kits through the website, covidtests.gov. The tests will begin shipping, via the United States Postal Service, as soon as next week.

The website has been reopened on the heels of a summer COVID-19 virus wave and heading into the fall and winter respiratory virus season, with health officials urging Americans to get an updated COVID-19 booster and their yearly flu shot.

U.S. regulators approved an updated COVID-19 vaccine that is designed to combat the recent virus strains and, they hope, forthcoming winter ones, too. Vaccine uptake is waning, however. Most Americans have some immunity from prior infections or vaccinations, but under a quarter of U.S. adults took last fall’s COVID-19 shot.

Using the swab, people can detect current virus strains ahead of the fall and winter respiratory virus season and the holidays. Over-the-counter COVID-19 at-home tests typically cost around $11, as of last year. Insurers are no longer required to cover the cost of the tests.

Since COVID-19 first began its spread in 2020, U.S. taxpayers have poured billions of dollars into developing and purchasing COVID-19 tests as well as vaccines. The Biden administration has given out 1.8 billion COVID-19 tests, including half distributed to households by mail. It’s unclear how many tests the government still has on hand.

The Canadian Press. All rights reserved.

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