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Thursday, February 7, 2013

On to a positive note!

I got an email from the researcher, Jennifer Lentz, from LSU in New Orleans on Tuesday. She said her article had been published about her drug therapy that she is testing on mice who have Usher 1C. This is VERY exciting news for the entire Usher Community. Her testing has so far corrected the hearing and the balance aspect of Usher 1C, but this could lead to a cure for the vision as well. She asked if I would be willing to speak with the Associated Press because they wanted to interview a parent of a child with Usher 1C, to which I agreed of course. I am also in the process of contacting local news organizations to make sure that the article put out by the AP is picked up in this area. And although treatment in people is still years away... it's in the works! :)

Here is a copy of one of the articles published by a New Orleans news team:

Local medical research team makes breakthrough in curing deafness

Meg Farris / Eyewitness News

NEW ORLEANS -- Usher Syndrome is the leading cause of combined deafness and blindness in the world, affecting one of every 6,000 babies born. The genetic defect is even higher in Acadian people here in Louisiana and Canada.

Now a local research team has taken a major first step to curing this deafness by successfully treating it in a mouse model.

In 1998 Dr. Bronya Keats made research headlines when her team at LSU Health Sciences Center found a genetic defect that caused a type of deafness. She said then that a therapy to fix it was a decade or so away.

Now 14 years later, a young scientist who worked in her lab has done just that, by treating Usher Syndrome in mice that had the human gene for Usher put in them.

"The study reported today, shows that a single dose of the therapy corrects deafness for at least six months out of the life of the animal which is about two years of age," said Dr. Jennifer J. Lentz, the lead author on the paper and an assistant professor of otolaryngology and biocommunications at LSU Health Sciences Center.

Dr. Lentz worked for years to create the mouse model with the human Usher's gene. Now she and her team at the LSU Neuroscience Center have discovered an injection that tells the defective gene in Usher syndrome to express, or to do what it is supposed to do if it were not defective. This finding is just released in one of the most prestigious publications, Nature Medicine.

"This is without any doubt a very significant breakthrough in medicine," said the head of the Neuroscience Center, Dr. Nicolas Bazan.

Video on the Nature Medicine site shows the therapeutic breakthrough in mice. One that is spinning around has Usher syndrome. It has inner ear problems that cause it to have balance problems. It can't hear either. But after getting the therapy, the mouse acts completely normal.

This discovery, for treating the gene that causes babies to be born deaf with balance problems and then become blind in their teens, could open doors.

"The importance of this study shows that we can target the ear to correct deafness and we can hopefully use this approach to treat other forms of deafness," Dr. Lentz said.

"This is one of the most exciting times I believe in medicine," said Dr. Bazan, who praised Dr. Lentz's creation of the mouse model.

The special mice had to be rescued during the floods of Hurricane Katrina.

Dr. Lentz said studies and treatment in people is still years away.  

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