[nfb-talk] Project 3000;Leber's congenital amaurosis

[Bill Outman]

Hi, all.

I hope everyone had a happy Thanksgiving.  This condition doesn't personally
affect me, but I thought I would pass along this article I found for those
who may benefit from this information or who might want to support this
cause.  I've sent this to all the blindness lists I'm currently on so as to
reach a wide audience.

You can link to further information through the Cubs web site as I couldn't
retain the links themselves.

Bill Outman
Daytona Beach, Florida

Beginning of article, annotated at top for attribution

Project 3000

Article by Carrie Muscat, MLB beat writer for Cubs
11/21/06
CHICAGO -- Since Cubs first baseman Derrek Lee first announced the launch of
Project 3000 in late September, there has been great excitement and a flurry
of activity among doctors and scientists who care for patients with Leber's
Congenital Amaurosis (LCA).

And Lee's 3-year-old daughter, Jada, who lost her vision in one eye and
prompted the effort, is still getting mail, prayers and support. Someday,
they hope
to find a cure.

Lee teamed up with Boston Celtics owner Wyc Grousbeck to create Project
3000, a foundation to fight LCA, an inherited form of blindness. The goal is
to
provide state-of-the-art genetic testing for every man, woman and child who
has LCA. People are urged to contact
Project 3000
for more information.

"We have already had tremendous interest in this project from all over the
world," said Dr. Edwin Stone, a professor of ophthalmology at the University
of Iowa Carver College of Medicine and the scientific director of Project
3000. "In the first day alone, the Project 3000 Web site received thousands
of
hits, and Cubs fans and Celtics fans began sending in support."

For example, one fan, who lives in Japan, first met Lee more than 20 years
ago when his father played baseball there. He put a Derrek Lee Cubs jersey
up
for auction and sent the proceeds to fund the research effort at the
foundation.

"She's doing great," Lee said on Monday of his daughter. "You would never
know."

Lee and his wife, Christina, are able to deal with their daughter's partial
blindness better after meeting 9-year-old Alan Brint, who also has LCA.

"They wondered how children who are blind function," said David Brint,
Alan's father and the director of the Foundation of Retinal Research. "When
they
got to meet my son, you could see the light in their eyes."

Young Alan is a talented pianist and has perfect pitch, said his father. The
boy, who's also a Cubs fan, can play whatever he hears.

"[Alan] plays games, has a good sense of humor and he functions around the
house," said Brint, who lives in the Chicago area. "I'm not saying it's easy
-- it's a lot of work and it's scary. But I think it calmed [the Lees].

"You start entering a world and learning what you can do," Brint said. "You
get enough help and say, 'OK, I can do this.' It takes a lot of therapy and
help and love."

The Lees admitted meeting Alan helped ease some of their fears.

"You see someone else going through it and they're fine," Lee said. "It's
comforting to know it will be OK."

Their fight continues to find a cure.

Since Project 3000 was announced, Stone said that interest has been high
among doctors who care for LCA patients. For example, Dr. John Kitchens, a
retina
specialist in Kentucky, has already organized his partners to help identify
all of the patients in that state afflicted with LCA.

Similarly, Dr. Richard Weleber and his staff at the Casey Eye Institute in
Portland, Ore., are helping to design a patient questionnaire that will help
the team identify patients with LCA from among the tens of thousands of
patients who, for a number of other reasons, first experienced severe vision
loss
during their childhood.

In the Carver Laboratory at the University of Iowa, several additional
personnel have been hired and some new robotic instrumentation has been
installed
to help keep up with the increased number of genetic tests being ordered.

"Working together, sports fans, professional athletes, patients, parents,
doctors and research scientists are already making terrific progress in our
understanding
of LCA," Stone said. "And with all this momentum, we are looking forward to
even greater things in the coming year."

Lee is determined to do whatever he can, and may go with Brint to attend the
Foundation for Fighting Blindness "Day of Science" event in Orlando, Fla.,
in January, when researchers gather to talk to constituents. There's
strength in numbers, Brint said, and Project 3000 is a huge step in finding
people
affected with LCA and getting them tested.

"This project that [Lee's] doing will have an enormous impact," Brint said.
"A lot of people had been misdiagnosed. There are eight, 10 different genes
that can cause this. We want to find out people who have this diagnosis, and
we want to do gene screening to find out which genes are involved.

"This is a project we've been trying to do in modest ways for half a dozen
years. This will make it happen in short order and the information will be
enormously
valuable."