Boy with Rare Genetic Disorder Amazes Doctors After World-First Gene Therapy

Courtesy of Oliver Chu family

The first child in history has successfully been treated with a new genetic therapy for an ultra-rare developmental defect called Hunter syndrome.

Several years in the making, Oliver Chu became the first in the world to receive the stem cell-based treatment in February, and 3 months later seemed to be a normal child again, meeting important milestones and playing without supervision.

Royal Manchester Children’s Hospital, which oversaw the trial of Oliver and 4 other patients, says that children with severe Hunter syndrome cannot properly break down complex sugar molecules and have widespread symptoms including rapid and progressive learning and memory problems, heart and lung dysfunction, hyperactivity and behavioral problems, bone and joint malformations and hearing impairment.

They cannot break down the sugars because their genetic code was formed with a defect: the gene that codes for the production of an enzyme called iduronate-2-sulfatase (IDS) doesn’t work properly.

Professor Brian Pigger, professor of cell and gene therapy at the University of Manchester, developed a method of replacing the faulty gene with a functioning copy, called autologous hematopoietic stem cell (HSC) gene therapy.

In December, Oliver Chu, from California, arrived at Royal Manchester for the first stage of the procedure. The 3-year-old had his blood cycled in a machine to extract the hematopoietic stem cells he produces naturally. These were then sent off to a laboratory at Great Ormond Street Hospital in London, where a functioning copy of the defective gene is inserted into a virus and placed inside the stem cells.

In February, mother Jingru cradled Oliver in his hospital bed as he received an injection of 125 million modified cells twice in the space of 2 hours. It was a momentous day that the young boy was completely oblivious to.

After a few days, Oliver flew back to California to reunite with his older brother Skyler, who also has the disease, and his father Ricky.

Hunter syndrome affects almost exclusively boys, and then only 1 in 100,000 live births. A major challenge in the disease that can often be fatal is that treatment methods can’t cross the blood-brain barrier, as the major manifestation of the inability to break down sugars occurs in the brain.

One commercially available drug called Elaprase can slow the effects, but can’t cross the blood brain barrier. It costs as much as a house for a year’s prescription. Another treatment has been to give regular infusions of the missing enzyme, just like a diabetic would take infusions of insulin.

In May of this year, BBC reports that Oliver’s development has become remarkably normal. He’s talking all the time, and been able to stop the enzyme infusions. He runs around like any other 3-year-old, utilizing a newly-exploded vocabulary, and demonstrates genuine inquisitiveness.

“Every time we talk about it I want to cry because it’s just so amazing,” his mother Jingru told the BBC.

“We can see he’s improving, he’s learning, he’s got new words and new skills and he’s moving around much more easily,” said Professor Simon Jones, who ran the trial that saw Oliver and four other boys receive the gene therapy. “We need to be careful and not get carried away in the excitement of all this, but things are as good as they could be at this point in time.”

Unfortunately for Skyler, who also has Hunter syndrome, he’s too old to receive his younger brother’s treatment. The 5-year-old receives infusions like Oliver used to, it allows him to regain some physical development normalcy, but the infusions can’t cross the blood-brain barrier.The treatment window in the trial was 3 months to 1 year of age. It was originally believed that Oliver was too old, but a battery of tests concluded there was still a window where the therapy might reverse the genetic defect in the brain as well as the body. Ricky is hopeful the treatment will prove successful, prompting further innovation into how it might help treat older children like Skyler. Boy with Rare Genetic Disorder Amazes Doctors After World-First Gene Therapy

Read More........→December 01, 2025

Counting on Fingers Really Helps Kids Improve Their Math Skills–By 40% New Study Shows

By Yan Krukau via Public Domain on Pexels

Some teachers consider finger counting a signal that youngsters are struggling with math, while others associate its use as advanced numerical knowledge.

Now, new research is the first to show that children’s performance in arithmetic can show a “huge” improvement through the teaching of a finger-counting method.

Swiss and French teams explored whether finger counting can help primary-school-aged children to solve math problems. They said adults rarely use their fingers to calculate a small sum, because such behavior could be attributed to cognitive impairments or “pathological difficulties” in math.

But young children under age 8 who use their fingers to solve such problems may be seen as intelligent, probably because they have already reached a level that allows them to understand that a quantity can be represented by different means.

The research aimed to determine whether children who don’t count on their fingers can be trained to do so, and whether such training would result in enhanced arithmetic performance.

The study, published in the journal Child Development, focused on 328 five- and six-year-old children at kindergarten, mainly living in France, and tested their abilities to solve simple addition problems.

The kindergarteners were recruited through their teachers, who voluntarily took part in the experiment, which included a pre-test, training held over two weeks, a post-test closely after the training’s end, and a delayed post-test.

The results showed an “important increase” in performance between pre- and post-test for the trained children who did not count on their fingers originally—from 37% to 77% of correct responses—compared to non-finger users in the control group.

Whether children who use finger counting are using it as an arithmetic procedure or understand something deeper about numbers will still need to be determined with future research.

“Our findings are highly valuable because, for the first time, we provide a concrete answer to the long-standing question of whether teachers should explicitly teach children to use their fingers for solving addition problems,” said study leader Dr. Catherine Thevenot.

“Finger calculation training is effective for over 75% of kindergartners,” she added. “The next step is to explore how we can support the remaining 25% of children who didn’t respond as well to the intervention.”

Dr. Thevenot, of the Institute of Psychology at the University of Lausanne, Switzerland, says the study came about as a result of conversations with primary school teachers.

“They often asked me whether they should encourage or discourage children from using their fingers to solve calculations.

“Surprisingly, the existing research didn’t offer a clear answer, which left teachers understandably frustrated with my frequent response of ‘I don’t know.’

“This recurring question, coupled with the lack of concrete evidence, inspired me to investigate the issue myself.

“When I first saw the results, I was amazed by the huge improvement in performance among children who didn’t initially use their fingers to solve the problems.

“Before our intervention, these children were only able to solve about one-third of the addition problems during a pre-test. After training, however, they were solving over three-quarters of them.

“This improvement truly exceeded my expectations,” said Dr. Thevenot. “The difference was striking, especially compared to the control groups, where gains were insignificant.

“An important question now is to determine whether what we taught to children goes beyond a mere procedure to solve the problems.

“In other words, we want to know whether our intervention led to a deeper conceptual understanding of numbers, specifically whether children better grasp how to manipulate the quantities represented by their fingers.

In fact, we have already started addressing this question and the initial results are very promising. However, we still need to carry out additional experiments to confirm that these improvements are indeed a direct result of our training program.”, Counting on Fingers Really Helps Kids Improve Their Math Skills–By 40% New Study Shows

Read More........→September 23, 2024