[ad_1]
An Australian scientist has discovered a previously unknown condition of a gene mutation that can cause blindness in entire families.
Professor Robyn Jamieson, Head of the Eye Genetics Unit at the Westmead Children's Medical Research Institute in Sydney, made this breakthrough discovery after four years of work.
It all started when Beth White, Sydney's mother, started seeing Professor Jamieson for his retinal disease in 2004.
The researcher later discovered that Ms. White's three young children were also showing signs of vision loss.
All four presented a range of bizarre but seemingly unrelated symptoms, ranging from fever and recurrent headaches to an abnormally large spleen.
"We suspected the presence of a new gene because of its unusual characteristics," said Professor Jamieson.
"We worked with researchers around the world and found the same problem in other families, who also had this unusual connection between symptoms and optic nerve problems.
"We then discovered that the same genetic variant caused eye disease in four other families."
The variant was discovered in the ALPK1 gene and the new disease was called ROSAH syndrome.
"Two families (from abroad) have several members and with the other two families, it has already appeared in one person.
"For their children, they will now be at 50-50 risk of having this condition."
It seems that blindness is a "pretty important part" of ROSAH syndrome, said Professor Jamieson.
"All the people we have identified have severe visual impairment. It starts gradually in childhood and, over time, they seem to become considerably impaired, "she said.
Ms. White has begun to experience a loss of vision in adolescence that has worsened over time and hopes that the major discovery will pave the way for treatment and prevention.
"Living with a visual impairment every day is hard work and I do not want it for my children," said White.
"All parents want to give their children every chance of a better life, and I can not imagine the impact. Even if we could stabilize their vision, if they could keep what they have now, it would be a miracle. "
Related story: Australian engineers have developed a device that can help blind and visually impaired people navigate the world
David White said he saw his wife slowly lose "his vision, mobility and confidence" because of his condition.
"I have seen my wife suffer this, and if I can avoid seeing my children suffer that, then I will," White said.
"It will revolutionize the lives of so many people. We do not have much time, the more it takes time, the less they will have to save vision. "
Professor Jamieson suspects other families of wearing the genetic variant and having ROSAH syndrome.
"I think it may be more common than what has been identified so far. It's so unusual, the collection of symptoms, that I think it has not been identified yet. "
Families identified as having ROSAH syndrome endured years of confused doctors who could not see any link between the symptoms, she said.
"Now, families and their doctors know that it's a syndrome that other people also have.
"It also means that it is possible to develop genetic therapy or whatever, because we are able to do more investigation on the function of the gene. This could be an opportunity to think about a potential treatment. And it's really exciting. This certainly creates hope. ''
The discovery of Professor Jamieson was published today in Genetics in medicine – which is the journal of the American College of Medical Genetics and Genomics.
Continue the conversation [email protected]
Source link
