Weir makes major breakthrough at masters level after getting a rare mutation
A Michigan man whose brother became blind due to a rare genetic disease may now hold the key to finding a cure for the condition.
According to a newly published study, it is likely the genetic cause of James Weir’s sight and hearing impairment caused the condition before he met his brother, Andrew.
Andrew Weir started hearing at age 7, according to a study published in The New England Journal of Medicine. He was diagnosed with a rare genetic disorder called DSP-2 that caused him to lose some of his hearing.
While some adults have the gene mutation that caused the condition — known as LAM1A — the treatme우리카지노nt does not work for everyone else, which is why Weir’s brother had to take his life as a baby because of the disease.
“The family in Detroit had been living with this disease for a very long time,” study researcher Thomas Besser told ABC News today.
The study found that LAM1A was present in the genes of a third of children with LAM1A and a third of children with a non-LAM1A version of the disease. But the gene wasn’t present in children with LAM1A, but in those who had a non-LAM1A version of the disease.
“It was quite astounding that we found that kids with LAM1A and non-LAM1A were at a slightly lower risk of developing deafness, but not so much that the genetic risk was completely eliminated,” Besser said.
Since there are no FDA-approved drugs for LAM1A, the research team decided to create a drug that blocked LAM1A, then took two children from each fa카지노 사이트mily.
“One child developed deafness after taking the second drug, which turned out not to have any effect on the brain of the first child who didn’t develop deafness. As we’ve been doing this kind of research, the re바카라sults in mice and in humans are pretty promising. In the current study, that is the case for the LAM1A variant and for LAM1D, as we’ve found that there are genes for both variants,” Besser said.
Olivia O’Connor, 26, was the first to successfully take one of the children from her family with LAM1D, and the other two siblings became deaf within the next two years.
The findings, detailed today in the journal Cell Stem Cel
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