But when an email popped up suggesting that Yuna might have a

A Scientist Finds Her Child’s Rare Illness Stems From the Gene She Studies

canada goose coats on sale PORTLAND, Ore. By the time her mother received the doctor’s Canada Goose Coats On Sale email, Yuna Lee was already 2 years old, a child with a frightening medical mystery. Plagued with body rattling seizures and inconsolable crying, she could not speak, walk or stand.

Canada Goose online “Why is she suffering so much?” her mother, Soo Kyung Lee, anguished. Brain scans, genetic tests and neurological exams yielded no answers. But when an email popped up suggesting that Yuna might have a mutation on canada goose a gene called FOXG1, Soo Kyung froze.

Canada Goose Parka Almost no one else in the world would have had any idea. But Soo Kyung is a specialist in the genetics of the brain “a star,” said Robert Riddle, a program director in uk canada goose neurogenetics at the National Institute of Neurological Disorders and Stroke. For years, Soo Kyung, a developmental biologist at Oregon Health and Science University, had worked with the FOX family of genes.

“I knew how critical FOXG1 is for brain development,” she canada goose coats said.

Canada Goose Outlet She also knew harmful FOXG1 mutations are exceedingly rare and usually not inherited the gene mutates spontaneously Canada Goose online during pregnancy. Only about 300 people worldwide are known to have FOXG1 Canada Goose Jackets syndrome, a condition designated a separate disorder relatively recently. cheap Canada Goose The odds her own daughter would uk canada goose outlet have it were infinitesimal.

canada goose clearance sale New research shows that each year, about 400,000 babies born worldwide have neurological disorders caused by random mutations, said Matthew Hurles, head of human genetics at Wellcome Trust Sanger Institute. As sequencing becomes cheaper, more children will receive specific diagnoses like FOXG1 syndrome, doctors say.

This burst of discovery might eventually help doctors treat or prevent some brain damage. “We used to lump them all together under autism or another category,” said Dr. Joseph Gleeson, a neurogeneticist at University of California San Diego. “It’s really changing the way doctors are thinking about disease.”

canada goose store Balancing the missions of science and motherhood, Soo Kyung has begun doing what she is uniquely positioned canada goose femme to do: aiming her research squarely at her daughter’s disorder. With Jae’s help, she is studying how the FOXG1 gene works and why mutations like Yuna’s are so devastating.

buy canada goose jacket cheap “Our canada goose clearance ultimate goal is to find a better treatment for FOXG1 syndrome patients,” she said. Her day to day goal is helping Yuna make slivers of developmental progress.

Yuna is now a sweet natured 8 year old still wearing a toddler’s onesie over a diaper. It inspired the Lees, then professors at Baylor canada goose factory sale College of Medicine, to name her “Yuna,” meaning “snow girl” in a Korean dialect, with the middle name “Heidi” for its allusion to snowy peaks.

canada goose clearance “She was perfectly normal,” Jae said. “We were joking, ‘What will come later?’ Yuna’s mom buy canada goose jacket is a very smart person, so we thought, ‘Well, she will make the world better.'”

canada goose deals But soon, things seemed off. Yuna often failed to respond to sounds. She struggled to swallow milk Canada Goose Online from breast or bottle. What she did swallow she vomited. “She looked like someone with malnutrition,” Soo Kyung canada goose uk shop said.

A doctor said her head circumference was not growing enough. Then Yuna began having seizures, often sending the Lees to the canadian goose jacket emergency room. She cried Canada Goose sale so persistently that Soo Kyung had to buy canada goose jacket cheap assure neighbors Yuna was not being abused.

Canada Goose Jackets “What did I do wrong?” Soo Kyung grilled herself. Had she eaten something while pregnant that infected Yuna? “I was traveling a lot during the pregnancy to attend seminars was I too stressed?”

canada goose “She started to tell me canada goose black friday sale what’s going on with her daughter,” recalled Dr. Rowitch, professor and head of pediatrics at the University canada goose store of Cambridge who was then at the University of California San Francisco. He was stumped but offered to send Yuna’s brain scans to “the world’s expert” in neuroradiology: Dr.

Canada Goose sale Dr. Barkovich said Yuna’s scans revealed “a very unusual pattern,” one he had not seen in decades of evaluating brain images sent to him from around the world. Yuna’s cerebral cortex had canada goose uk black friday abnormal white matter, meaning canada goose coats on sale “there were probably cells dying,” he said, and the corpus callosum, the corridor across which cells in the left and right hemispheres communicate, was “way too thin.”

canadian goose jacket Searching scientific literature, he said, “I found a gene that seemed to be expressed in that area and found that Canada Goose Outlet when it was mutated it caused a very similar pattern.” That gene was FOXG1.

FOXG1 is so crucial that its original name was “Brain Factor 1,” said Dr. William Dobyns, a professor of pediatrics and neurology at University of Washington, who published a 2011 study recommending a separate diagnosis: FOXG1 syndrome. “It’s one of the most important genes in brain development.”

canada goose coats FOXG1 provides blueprints for a protein that helps other https://www.goosefrshop.com genes switch on or off. It helps with three vital fetal brain stages: delineating the top and bottom regions, adjusting the number of nerve cells produced and “setting up the organization of the entire cortex,” Dr. Dobyns said.

cheap Canada Goose So, when Dr. Barkovich’s email said he “would not be surprised if this is a FOXG1 mutation,” Soo cheap canada goose uk Kyung’s heart shuddered. canada goose clearance sale “That’s unthinkable,” she despaired. So she decided to sequence the gene Canada Goose Parka herself, preparing to seek university permission since her lab only worked with animals. Then, she became pregnant again. canada goose uk outlet That provided justification for professional analysis of Yuna’s gene to determine if there was a heritable mutation the Lees could have also transmitted to their second child.

buy canada goose jacket When results showed a FOXG1 mutation, Soo Kyung requested the raw data, hoping the lab had messed up. In a wheelchair or special walker, she is guided by a paraprofessional, Audrey Lungershausen, who tries to keep her from grabbing student artwork and coats, while encouraging her to identify balls and faces on a mural.

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