Posts tagged fragile x

Novartis has taken a step closer to creating a drug that will alleviate some of the neural problems suffered by those with the Fragile X genetic disorder. And researchers are also hopeful that the drug may be able to treat autism too.

From the NYTimes here:

An experimental drug succeeded in a small clinical trial in bringing about what the researchers called substantial improvements in the behaviors associated with retardation and autism in people with fragile X syndrome, the most common inherited cause of these mental disabilities.

The surprising results, disclosed in an interview this week by Novartis, the Swiss pharmaceutical giant that makes the drug, grew out of three decades of painstaking genetic research, leaps in the understanding of how the brain works, the advocacy of families who refused to give up, and a chance meeting between two scientists who mistakenly showed up at the same conference.

“Just three years ago, I would have said that mental retardation is a disability needing rehab, not a disorder needing medication,” said Dr. Thomas R. Insel, director of the National Institute of Mental Health, who was told of the Novartis trial results. “Any positive results from clinical trials will be amazingly hopeful.”

The gene for fragile X was discovered in 1991. Work since then has found that fragile X patients seem to experience an overload of unchecked synaptic noise — synapses being the junctions between brain neurons. The Novartis drug and others like it are intended to lower the volume of this noise so memory formation and high-level thinking can take place, allowing children to develop normally.

Believe it or not there are lots of Aspergers and Autism advocates that do not want a cure for the disease because they feel that the disease is what makes them special or extraordinary. But most families will be relieved to get their hands on a cure.

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