Skip to main content
News_

The gene therapy research that could save a family of four
快喵下载安装

18 December 2019
World-first research into genetic disorder
Mary and Neveah Taouk suffer from a disorder so rare it has no name. Now, thanks to new research and a crowdfunding push, the sisters and their parents have a glimpse of hope.
小可爱下载

Sisters Mary and Neveah Taouk suffer from a rare genetic disorder.

Charlie and Mira Taouk’s hopes for their daughters are different from the kind most parents have for their children. The Taouks wish eight-year-old Mary and four-year-old Neveah could stand and walk without help. They dream their girls might one day learn to communicate with basic gestures. “At least then they could point to where their pain is,” Charlie says. “If they were hungry or thirsty or tired, they could let us know and we could help. For us, those things would be life-changing.”

Charlie and Mira dare not imagine a cure will be discovered for their daughters’ rare genetic disorder. They don’t even hold out much hope for a decent night’s sleep; seizures regularly rack their girls’ bodies in the small hours. “It’s been years since we went to bed with minds clear of anxiety and panic,” Charlie says.

Mary and Neveah were both born with a mutation in the gene known as PGAP1 – a recently discovered disorder so rare it has no name. The family know of no other cases in Australia. Specialists have identified perhaps a dozen cases around the world.

For years it seemed no-one could help Mary and Neveah but now, with support from a donation from the Taouk family and a newly launched crowdfunding campaign, researchers at the University of Sydney and the Children’s Medical Research Institute will work to develop the world’s first gene therapy targeting the PGAP1 mutation. This research is Charlie and Mira’s first glimpse of hope since their eldest daughter started showing symptoms as a baby.

西瓜直播官网

Mary Taouk, 8

钦州辉国大商贸有限公司

For the first six months of her life, Mary seemed like a healthy little girl. Charlie and Mira first suspected something was wrong when she started missing developmental milestones. Their baby never made eye contact. She cried all the time. She slept no more than three hours a night.

As Mary grew, so did her problems. She could not speak and struggled to eat. Her muscles were so weak it was hard for her to move. She started having seizures – often clustered with only a minute’s rest between fits. Doctors ran tests, but they came back clear. Without a diagnosis, there was nothing anyone could do.

The uncertainty made it difficult to predict what would happen if Charlie and Mira had another child. At worst, geneticists told them, there was a one in four chance the condition would appear again. They took the risk.

When Neveah was six months old, familiar symptoms began to appear. Both girls, it seemed, had the same unknown condition. With both children requiring constant care, Charlie gave up his waterproofing business to stay home with his family. “But what can you do when you don’t even know what’s wrong with your child? You can’t even try to help,” he says.

What can you do when you don’t even know what’s wrong with your child? You can’t even try to help.
Charlie Taouk
泡泡直播下载

Neveah Taouk, 4

娄底金千中科技有限公司

At last, when Mary was seven and Neveah three, new developments in whole-genome sequencing enabled specialists to identify the disorder. The diagnosis gave the Taouks information but not hope. They knew what the problem was, but there was no treatment and no cure.

Desperate, Charlie contacted specialists around the world. “I must have spoken to at least fifty people – scientists, doctors, professors,” he says. “Most of them had never heard of the condition.”

His search eventually led to Dr Wendy Gold, a specialist in rare genetic disorders in children, based at the University of Sydney and the Children’s Hospital at Westmead. “We arranged to talk,” says Charlie. “To be honest, I wasn’t expecting much. But then she said, ‘Have you heard of gene therapy?’”

Gene therapy is a new and rapidly evolving field of research. One of the therapy’s forms involves adding new genes to a patient’s cells to replace missing or malfunctioning genes. The new genes are typically delivered to the appropriate cells in the body using a benign virus as a carrier. Gene therapy is already being used to treat diseases including spinal muscular atrophy. It could also be a promising treatment for Parkinson’s disease. Dr Gold believed there was a chance it could help the Taouk girls.

We are working hard to ensure the gene-therapy revolution benefits Australian paediatric patients as soon as possible.
Dr Leszek Lisowski

集宁谦高洪商贸有限公司

Finding funding for research into rare medical conditions is a challenge. Pharmaceutical industry funding and other research grants tend to focus on conditions that affect larger numbers of people. Philanthropic support was the only option.

With help from their family, Charlie and Mira have donated $315,000 to fund research to develop the world’s first gene therapy for the PGAP1 mutation. Dr Gold will co-direct the project with Dr Leszek Lisowski, a gene therapy expert at the University of Sydney and the Children’s Medical Research Institute.

The donation from the Taouk family will fund two years of research. The University has launched a crowdfunding campaign to support the project beyond this period. Within two years, Drs Gold and Lisowski hope to develop a PGAP1 gene addition ready for testing, initially in cells outside the body. It will take longer to investigate the feasibility of a therapy for use inside the human body, so the crowdfunded support is crucial.

杭州耀洪进有限公司

Success is not guaranteed, but the team hopes to develop a treatment that will help children around the world. “This is experimental work, so we can’t be sure what will happen, but the goal is a therapy that could be used on other patients with the same mutation,” says Dr Gold. “I’m hoping it will help these girls and other children as well.”

It doesn’t end there. “The tools and knowledge developed during this project will also benefit paediatric patients affected by other genetic disorders,” says Dr Lisowski. “This technology is already curing genetic disorders and changing lives. We are working hard to ensure the gene-therapy revolution benefits Australian paediatric patients as soon as possible.”

Hope, for Charlie and Mira, feels like a risk. But if there’s a chance for their girls, no matter how small, they will take it. “We wake up for them every morning,” says Charlie. “This research – if it works – won’t just be treating two girls. It will be saving a family of four. This is a cure for us, too.”


莆田茂多兴有限公司

桃花直播官网 水蜜桃下载 乐购直播下载安装 笔芯直播下载 Huluwa下载 含羞草视频官网 麻豆视频下载 本色视频下载安装 小天仙直播官网 fi11含羞草官网 樱花官网 小优下载 食色下载安装 本色视频下载安装 红颜下载安装 春水堂官网 七秒鱼下载 月光宝盒直播下载安装 烟花直播官网 咪哒下载 榴莲视频官网 玉米视频官网 小公主直播下载安装 橙子视频下载安装 米老鼠直播官网 黄瓜直播下载 和欢视频下载安装 蜜桃直播下载安装 樱花下载安装 性福宝下载 月亮直播下载 云雨直播下载 豆奶短视频官网 鸭脖视频官网 乐购直播下载安装 七秒鱼官网 IAVBOBO官网 杏吧直播官网 彩云直播下载 小小影视下载安装 一对一直播下载 尤蜜视频下载 音色短视频下载安装 斗艳直播下载 水晶直播官网 抖阴直播下载安装 向日葵视频官网 小怪兽下载 梦幻直播官网 水晶直播官网 暖暖直播下载 快狐官网 富二代f2下载安装 鸭脖视频下载 秀色直播下载安装 薰衣草直播官网 抖阴直播官网 蜜柚下载 富二代f2短视频下载安装 猛虎视频下载 蓝颜下载 Kitty直播下载 火爆社区下载 七仙女直播官网 成人直播官网 春水堂下载安装 小优下载安装 云上花下载安装 久草视频下载 蜜蜂视频下载 小草莓官网 成版人音色短视频下载安装 粉色视频下载 男人本色西瓜视频下载安装 泡芙下载 咪哒官网 红娘直播下载安装 烟花巷直播下载 69热官网 月亮直播下载安装 秋葵视频官网 91香蕉视频官网 香蕉直播官网 花姬直播下载安装 遇见直播下载安装 花姬直播官网 麻豆传媒直播下载 水晶直播下载 茶馆视频下载安装 JOJO直播下载安装 蓝精灵直播官网 大西瓜视频下载 小公主直播下载安装 陌秀直播官网 丝瓜草莓视频下载 蜜橙视频下载 樱桃直播官网 黄瓜直播下载 朵朵直播下载安装 泡芙下载安装 香蕉下载安装 榴莲视频下载 压寨直播下载 尤蜜下载安装 大番号下载安装 恋人直播官网 快狐下载安装 水晶直播下载安装 黄瓜直播下载 尤蜜下载 夜遇直播号官网 草榴视频下载 夜巴黎直播下载安装 香草成视频人官网 兔子直播下载安装 蜜橙视频官网 主播大秀下载 泡泡直播下载 玉米视频官网 杏吧直播下载 咪哒下载 草榴短视频下载 丝瓜草莓视频下载安装 芭乐视频下载 盘他直播下载安装 初见直播下载 考拉直播下载安装 麻豆传媒官网 暖暖直播下载安装 青青草官网 泡泡直播官网 蝴蝶直播官网 麻豆传媒视频下载安装 彩云直播下载安装 合欢视频下载 秋葵视频下载安装 红楼直播下载 麻豆传媒映画官网 杏花直播下载 草莓下载安装 主播福利官网 夜猫视频下载安装 花仙子直播下载安装 繁花直播官网 91香蕉视频官网 橙子直播官网 套路直播下载 彩云直播官网 小公主直播下载安装 粉色下载安装 可乐视频下载 酷咪直播下载安装 主播福利下载 菠萝蜜下载安装 音色短视频官网 成版人快手下载安装 小米粒直播官网 s8视频官网 合欢视频官网 七秒鱼直播下载 含羞草下载安装 快猫短视频下载安装 69视频官网 小奶猫官网 后宫视频下载 麻豆视频官网 成版人茄子视频下载 年华直播下载安装 蜜桃官网 小宝贝直播官网 杏趣直播官网 猫咪软件官网 泡芙视频下载安装 千层浪视频下载 仙人掌下载安装 草榴直播下载安装 久草下载安装 享爱下载安装 茄子视频官网 樱桃官网 奶茶视频官网 恋人直播下载安装 向日葵视频官网 橘子直播下载安装 享爱下载 成版人抖音下载安装 尤蜜下载 成版人音色短视频下载安装 仙人掌下载安装 成版人抖音下载 金屋藏娇直播间官网 富二代f2抖音官网 烟花巷直播下载 番茄直播官网 蝶恋花直播官网 左手视频下载 富二代f2抖音下载 成版人快手官网 暖暖直播下载 繁花直播下载安装 台湾swag下载安装 69视频下载 佳丽直播视频官网 夜猫视频官网 小仙女下载 老王视频下载安装 污软件下载安装 千层浪直播官网 七秒鱼下载 玉米视频官网 fi11含羞草下载 Kitty直播下载 小酒窝直播下载安装 蝶恋花下载 骚虎直播官网 成版人快手官网 千层浪下载安装 丝瓜下载 JOJO直播下载安装 茄子视频下载安装 大西瓜视频下载 夜魅直播下载 s8视频官网 抖阴官网 樱花下载 夜狼直播官网 茄子视频官网 牛牛视频下载 圣女直播下载安装 盘她直播下载安装 月光直播下载安装 金屋藏娇直播间下载 红颜官网 ML聚合直播官网 可乐视频下载安装 黄色直播软件下载 千层浪视频官网 91直播下载 茄子视频下载安装 盘她官网 丝瓜草莓视频下载安装 雨燕直播官网 薰衣草直播官网 大小姐直播下载 幸福宝官网 花狐狸直播官网 享爱直播官网 猛虎视频下载安装 享爱直播下载 比心直播官网 彩色直播下载 月夜直播官网 性直播官网 含羞草官网 污直播下载安装 富二代官网 享受直播下载安装 云上花直播官网 小狐仙官网 草莓视频官网 91香蕉下载 和欢视频官网 豌豆直播官网 茄子官网 暖暖直播下载 一对一直播下载 蜜蜂视频官网 仙人掌下载安装 合欢视频下载安装 柚子直播官网 尤蜜视频下载安装 小小影视下载 尤蜜视频下载 朵朵直播下载安装 麻豆视频官网 丝瓜视频污官网 泡泡直播下载安装 小姐姐直播下载 7秒鱼下载安装 番茄社区官网 杏花直播下载 初恋直播官网 大象视频下载 成版人抖音富二代下载 花姿直播官网 杏吧直播官网 梦鹿直播下载 小小影视官网 d2天堂下载安装 心上人直播官网 swag台湾下载 花友直播官网 丝瓜下载安装 快猫视频官网 花心视频官网 小狐仙下载 花姬直播下载安装 樱花直播下载 朵朵直播下载 卡哇伊下载安装 千层浪下载 青青草下载安装 丝瓜下载 猫咪软件官网 樱桃视频下载 AVBOBO下载 美岁直播下载安装 Kitty直播下载 铁牛视频官网 心上人直播下载 小猪视频下载安装 花姬下载 比心直播下载 豆奶下载安装 东京视频下载安装 暖暖直播官网 豆奶下载安装 十里桃花直播官网 光棍影院官网 污软件下载安装 大小姐直播官网 成人直播下载安装 蜜桃直播下载