Skip to main content

The gene therapy research that could save a family of four

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.

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.


Mary Taouk, 8


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

Neveah Taouk, 4


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


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.


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.”


恋人直播app污 蚪音污app在线下载 猛虎直播app下载手机版 七秒鱼app污 梦幻直播污app在线下载 茄子直播app下载手机版 小花螺直播app污 花心视频app下载手机版 小小影视app下载手机版 香草成视频人app下载手机版 鸭脖视频app污 f2富二代污app在线下载 杏趣直播app污 小奶狗视频污app在线下载 性福宝app污 么么直播污app在线下载 兔子直播app污 91直播app污 avgo污app在线下载 月夜直播app下载手机版 豆奶短视频app下载手机版 大西瓜视频app下载手机版 后宫视频app下载手机版 蚪音app污 年华直播污app在线下载 月亮直播app下载手机版 花粥直播污app在线下载 BB直播app下载手机版 云雨直播污app在线下载 69热污app在线下载 ML聚合污app在线下载 麻豆传媒视频app污 香蕉app污 小奶猫app污 泡芙短视频污app在线下载 91香蕉app下载手机版 男人本色西瓜视频app污 快狐app污 千层浪直播污app在线下载 四虎app下载手机版 千层浪视频app污 9uuapp污 初恋视频app下载手机版 樱花雨直播污app在线下载 啪嗒视频app污 蝴蝶直播app污 菠萝蜜视频app污 粉色app下载手机版 樱桃直播app污 秀色小抖音app污 柚子直播污app在线下载 蜜橙视频污app在线下载 冈本视频污app在线下载 菠萝蜜视频app污 lutubeapp污 樱桃污app在线下载 久草app污 69热app污 小蝌蚪视频污app在线下载 swag台湾app污 富二代短视频污app在线下载 梦幻直播app下载手机版 小草莓app下载手机版 番茄视频app下载手机版 尤蜜视频app污 豌豆直播app污 尤蜜视频app污 野花视频污app在线下载 69视频app污 泡芙短视频污app在线下载 豆奶抖音短视频app下载手机版 小仙女app下载手机版 快狐污app在线下载 抖阴直播app下载手机版 花秀神器app下载手机版 烟花巷直播app下载手机版 十里桃花直播app污 浪浪视频污app在线下载 6房间视频直播app下载手机版 么么直播app污 夜狼直播app污 奶茶视频污app在线下载 夜遇直播号app污 红杏视频污app在线下载 bobo直播污app在线下载 91视频app下载手机版 9uuapp下载手机版 暖暖直播app污 水仙直播app污 午夜直播间污app在线下载 媚妹秀app下载手机版 卖肉直播app污 梦幻直播app下载手机版 health2污app在线下载 云雨直播app污 麻豆传媒映画app污 小姐姐直播app下载手机版 比心直播app污 蓝精灵直播污app在线下载 橘子直播app下载手机版 91视频污app在线下载 麻豆传媒污app在线下载 久草视频app下载手机版 主播福利app污 Avboboapp下载手机版 福利直播app污 嘿嘿连载污app在线下载 笔芯直播app下载手机版 红娘直播app污 AVnight污app在线下载 音色短视频污app在线下载 草鱼app污 嘿嘿连载app污 快猫视频污app在线下载 黄色直播软件app下载手机版 91直播污app在线下载 朵朵直播app下载手机版 抖阴app下载手机版 享爱污app在线下载 硬汉视频app下载手机版 快狐app污 粉色app污 鲍鱼视频污app在线下载 七秒鱼直播app下载手机版 初恋视频污app在线下载 泡芙视频污app在线下载 含羞草实验研究所app下载手机版 迷雾直播app污 依恋直播污app在线下载 大西瓜视频app下载手机版 s8视频污app在线下载 豆奶短视频app污 内裤直播app下载手机版 皮卡丘直播app污 草榴视频污app在线下载 小怪兽污app在线下载 花秀神器app下载手机版 小优app污 朵朵直播app污 小奶狗app污 蘑菇视频app下载手机版 小优污app在线下载 黄瓜视频人污app在线下载 成版人茄子视频app污 蘑菇视频污app在线下载 AVnightapp污 樱花视频app下载手机版 梦鹿直播污app在线下载 IAVBOBOapp污 豆奶抖音短视频污app在线下载 享受直播app下载手机版 樱花app污 铁牛app污 番茄直播污app在线下载 兔子直播污app在线下载 快猫视频app下载手机版 雨云直播app下载手机版 爱爱视频污app在线下载 朵朵直播app污 粉色视频污app在线下载 成版人抖音app污 午夜直播间app下载手机版 樱花直播app下载手机版 香草成视频人污app在线下载 美岁直播污app在线下载 夜遇直播号污app在线下载 荔枝app下载手机版 千层浪视频app下载手机版 花椒直播app下载手机版 向日葵视频app下载手机版 媚妹秀污app在线下载 玉米视频app污 成版人音色短视频app污 雨燕直播污app在线下载 柠檬视频污app在线下载 91视频app污 套路直播app污 春水堂app下载手机版 陌秀直播app污 小可爱app污 金鱼直播app污 粉色视频app下载手机版 蜜桃污app在线下载 9uuapp污 红楼直播污app在线下载 春水堂视频app下载手机版 名优馆污app在线下载 豆奶视频污app在线下载 橘子直播app污 陌秀直播app下载手机版 含羞草app下载手机版 97豆奶视频app下载手机版 avgoapp污 月光直播app污 蜜柚直播app下载手机版 久草视频污app在线下载 彩云直播app污 蝶恋花直播污app在线下载 云上花直播污app在线下载 望月直播app下载手机版 麻豆传媒app污 梦幻直播污app在线下载 小酒窝直播app污 菠萝蜜app下载手机版 快狐短视频app污 繁花直播污app在线下载 麻豆传媒映画app污 含羞草视频污app在线下载 秋葵视频污app在线下载 69视频污app在线下载 兔子直播app污 内裤直播app污 么么直播app污 雨燕直播app下载手机版 午夜直播app污 月色直播污app在线下载 云上花app下载手机版 香蕉直播app污 樱桃直播污app在线下载 直播盒子app下载手机版 小草视频app污 花姬污app在线下载 久草视频app污 水晶直播污app在线下载 番茄社区污app在线下载 恋夜秀场污app在线下载 食色短视频app下载手机版 蓝精灵直播app污 花仙子直播污app在线下载 快播破解污app在线下载 水晶直播app污 69热app下载手机版 富二代f2抖音污app在线下载 光棍影院app污 本色视频app污 花心污app在线下载 花狐狸直播app下载手机版 云上花app下载手机版 桃花直播app下载手机版 番茄社区app下载手机版 大小姐直播污app在线下载 快狐短视频app下载手机版 樱花直播污app在线下载 性直播污app在线下载 初恋视频app下载手机版 成版人抖音app下载手机版 香蕉直播污app在线下载 花姬app下载手机版 蜜桃污app在线下载 小仙女污app在线下载 樱花直播污app在线下载 黄色直播软件污app在线下载 69视频污app在线下载 梦鹿直播app污 微啪app污 杏趣直播污app在线下载 香草视频app污 成版人音色短视频app污 卡哇伊直播app污 梦幻直播污app在线下载 午夜直播app污 榴莲视频污app在线下载 暖暖直播app下载手机版 恋夜秀场app污 快狐短视频app下载手机版 麻豆视频app污 食色app下载手机版 冈本视频app污 遇见直播app污 小奶狗视频app污 向日葵视频app下载手机版 爱爱视频app下载手机版 夏娃直播app下载手机版 柠檬直播污app在线下载 探花直播app下载手机版 棉花糖直播app下载手机版 千层浪污app在线下载 小奶狗视频app污 大小姐直播污app在线下载 夜遇直播号app下载手机版 食色短视频app下载手机版 午夜直播app下载手机版 麻豆传媒映画污app在线下载 老王视频污app在线下载 趣播app下载手机版 水晶直播app污 花姬app下载手机版 花心直播app下载手机版 鸭脖视频app污 iavboboapp污 皮卡丘直播污app在线下载 91视频app污 成版人抖音app污 棉花糖直播污app在线下载 9uuapp污 花友直播app下载手机版 秋葵视频污app在线下载 盘她s直播污app在线下载 猛虎视频污app在线下载 猛虎视频app污 丝瓜草莓视频app污 avgoapp下载手机版 豆奶短视频app污 雨燕直播app下载手机版 黄瓜直播app污 微啪污app在线下载 春水堂污app在线下载 蚪音app污 乐购直播污app在线下载 灭火卫视污app在线下载 圣女直播污app在线下载 主播福利app下载手机版 爱爱视频污app在线下载 草榴短视频app下载手机版 IAVBOBOapp下载手机版 暖暖直播app污 佳丽直播视频app污 菠萝菠萝蜜视频app污 最污直播污app在线下载 花椒直播污app在线下载 香蕉app污 蝶恋花直播app污 秀儿直播污app在线下载 花心视频app下载手机版 浪浪视频污app在线下载 小草视频污app在线下载 花心app污 美岁直播app污 九尾狐视频app污 梦露直播污app在线下载 蚪音污app在线下载 鲍鱼视频污app在线下载 本色视频app污 朵朵直播污app在线下载 花心污app在线下载 火爆社区app下载手机版 JOJO直播app污 米老鼠直播污app在线下载 梦幻直播app污 富二代f2污app在线下载 69热污app在线下载 粉色视频污app在线下载 午夜神器app污 卖肉直播app下载手机版 桃花app下载手机版 夜狼直播app污 色秀直播app下载手机版 小草视频污app在线下载 云上花app下载手机版 老王视频app污 黄页荔枝app下载手机版 抖阴直播app下载手机版 恋人直播app污 探花直播污app在线下载 茄子直播污app在线下载 A头条污app在线下载 草榴视频污app在线下载 十里桃花直播app下载手机版 荔枝app污 宅男之家污app在线下载 午夜直播app下载手机版 木瓜污app在线下载 花椒直播app污 佳丽直播视频污app在线下载 富二代f2污app在线下载 豆奶视频app下载手机版 成人快手污app在线下载 木瓜app污 小草莓app污 快播破解app污 抖阴直播app下载手机版 趣播app下载手机版 咪咪直播app下载手机版 小蝌蚪视频app污 灭火卫视app污 大菠萝app污 云雨直播污app在线下载 卡哇伊直播污app在线下载 91直播app污 iAVBOBO污app在线下载 鸭脖视频污app在线下载 七仙女直播app下载手机版 盘他直播污app在线下载 七仙女直播app污 草榴短视频污app在线下载 享爱app污 91香蕉app污 小酒窝直播污app在线下载 蜜柚污app在线下载 swag台湾污app在线下载 花样视频app下载手机版 最污直播app下载手机版 粉色视频污app在线下载 番茄视频app污 d2天堂app污 好嗨哟直播app污 荔枝app污 茄子直播app下载手机版 大菠萝app污 微杏污app在线下载 成版人快手app污 69视频app污 食色短视频app下载手机版 初恋视频app污 春水堂视频app下载手机版 花心直播app污 免费黃色直播污app在线下载 香蕉污app在线下载 笔芯直播app下载手机版 野花视频app下载手机版 猫咪软件污app在线下载 97豆奶视频app污 鲍鱼视频app污 卡哇伊app下载手机版 小仙女app下载手机版 微杏污app在线下载 9uuapp下载手机版 水晶直播app污 s8视频app污 花友直播app污 九尾狐视频污app在线下载 直播盒子app下载手机版 豌豆直播污app在线下载 A头条app污 麻豆传媒直播app污 恋人直播app污 繁花直播app污 夜遇直播号app污 色秀直播app下载手机版 享爱app下载手机版 可乐视频app污 七秒鱼污app在线下载 微杏app污 黄瓜app污 91视频污app在线下载 咪哒污app在线下载 快狐短视频app污 小蝌蚪app污 丝瓜app下载手机版 最污直播app污 小草莓污app在线下载 荔枝app污 大象视频污app在线下载 好嗨哟直播污app在线下载 小公主直播app下载手机版 性福宝app下载手机版 四虎污app在线下载 草莓视频app下载手机版 尤蜜app污 初见直播app下载手机版 7秒鱼直播app污 蜜桃直播污app在线下载 趣播污app在线下载 陌秀直播app污 彩色直播app下载手机版 丝瓜视频污污app在线下载 梦幻直播app污 花样视频app下载手机版 可乐视频app污 可乐视频污app在线下载 直播盒子app污 avgoapp下载手机版 色秀直播污app在线下载 探探直播app下载手机版 豆奶视频app污 丝瓜视频污app污 性福宝app下载手机版 health2污app在线下载 红高粱直播app污 草鱼app下载手机版 花仙子直播app下载手机版 繁花直播app下载手机版 酷咪直播app下载手机版 花姬直播app污 花姬app下载手机版 快狐短视频app下载手机版 小蝌蚪视频app污 health2污app在线下载 麻豆传媒直播污app在线下载 茄子app下载手机版 草鱼app下载手机版 享受直播app污 米老鼠直播app下载手机版 杏花直播app污 光棍影院app污 秀儿直播污app在线下载 尤蜜app污 探花直播污app在线下载 月光宝盒直播app下载手机版 小猪视频污app在线下载 月光直播app污 红高粱直播app污 成人直播app下载手机版 蜜橙视频污app在线下载 红颜污app在线下载 柠檬直播app污 色秀直播app下载手机版 小花螺直播app下载手机版 遇见直播app污 快猫app下载手机版 后宫视频污app在线下载 快狐app下载手机版 成版人抖音富二代app污 趣播app污 小宝贝直播app污 桃花直播app下载手机版 小草视频app下载手机版 野花视频app污 91直播app下载手机版 豆奶视频app污 木瓜视频app污 小优app污 尤蜜视频app污 花椒直播app污 桃花直播污app在线下载 福利直播污app在线下载 内裤直播app污 午夜直播app下载手机版 蓝精灵直播污app在线下载 美梦视频污app在线下载 色秀直播app下载手机版 丝瓜视频app下载手机版 盘她直播污app在线下载 雨云直播污app在线下载 望月直播污app在线下载 午夜直播间app污 茶馆视频app污 千层浪直播污app在线下载 名优馆app污 iavbobo污app在线下载 小宝贝直播app下载手机版 木瓜app下载手机版 压寨直播污app在线下载 梦露直播app下载手机版 妖妖直播app污 花样视频app下载手机版 91香蕉污app在线下载 富二代f2短视频app污 盘他污app在线下载 暖暖直播app下载手机版 嘿嘿连载app污 小怪兽直播app下载手机版 茄子视频app污 富二代短视频app下载手机版 红杏视频app污 迷雾直播污app在线下载 97豆奶视频app污 木瓜视频污app在线下载 铁牛app下载手机版 swag台湾app下载手机版 年华直播污app在线下载 烟花巷污app在线下载 成版人音色短视频app污 红杏视频app下载手机版 大小姐直播app下载手机版 茄子直播污app在线下载 水晶直播app下载手机版 芭乐app污 夜猫视频app污 成版人抖音富二代app下载手机版 成版人短视频app下载手机版 杏趣直播app下载手机版 s8视频app下载手机版 欢喜视频污app在线下载 薰衣草直播app污 d2天堂app污 荔枝污app在线下载 蘑菇视频app污 硬汉视频污app在线下载 丝瓜视频污污app在线下载 红玫瑰直播污app在线下载 猫咪视频app下载手机版 快狐污app在线下载 盘她s直播app污 97豆奶视频app下载手机版 番茄社区污app在线下载 暗夜直播app下载手机版 花姬直播污app在线下载 花姬直播app污 初见直播app下载手机版 云雨直播污app在线下载 云上花污app在线下载 小姐姐直播app污