Thursday, June 10, 2010

Choroideremia (CHM)

A word you may have never heard of, a word

we know all too well. When a parent hears this

word, it is followed by the phrase, ÒYour son is

going blindÓ. To a teenage boy, hearing this

word means he can forget about driving a car

or serving his country in the military. His career

choices will be strictly limited due to the loss of

his sight.

With recent advances in genetic therapy

studies, we are very close to a cure for this

disease! With a cure for CHM, researchers say

it may open doors to cures and treatments for

other retinal degenerative diseases such as

Macular Degeneration!

With your donation, you are pushing this

ground breaking research forward. With your

donation, a mother may not have to watch her

son go blind!

CHM is a rare inherited disorder that causes

progressive loss of sight. It is caused by a

specific genetic defect that leads to

degeneration of cells in the eye that are

essential to sight.

Who gets Choroideremia?

CHM is genetically passed through families by

an X-linked genetic defect. Because of this only

males have loss of sight. Fathers will not pass

the gene to his sons, but his daughters will be

carriers. Mothers can be carriers and have a

50% chance of passing the disorder to their

sons, who will suffer sight loss, or to their

daughters who will be carriers.

Progression varies among individuals but

typically loss of ability to drive occurs in the

twenties, legal blindness in the thirties,

significant loss of peripheral sight and

dependence on mobility aids in the forties,

functional blindness in the fifties and total

blindness in the sixties.

About 7,000 males in the United States are

affected by CHM. Over two million people in

the US are affected by more common genetic

retinal degenerative disorders such as macular

degeneration and retinitis pigmentosa with

over forty-five million people affected


Thank you for learning about our cause!

Choroideremia Research


23 East Brundreth Street

Springfield, Massachusetts 01109

T 413.781.2274 or 423.612.5265

The CRF is a qualified charitable organization under

IRS Code 501(c)(3). Contributions are Tax Deductible

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Is there a treatment for Choroideremia?

Not yet, but we are very close. With adequate

funding human trials could begin in 2011.

Scientists have discovered the exact location of

the defective CHM gene on the X. Researchers

say CHM is an ideal target for research because

there is only one form of CHM (a single genetic

defect). Currently research is underway with

funding from the Choroideremia Research

Foundation and others to develop a treatment.

Pre-clinical trial work is underway at the

University of Pennsylvania Scheie Eye Institute

under the direction of Dr. Jean Bennett and the

Royal College of London under the direction of

Dr. Miguel Seabra. Dr. Ian MacDonald with the

University of Alberta developed the genetic

test for CHM and has been key in the ongoing

research for a cure.

In 2009 Dr. BennettÕs work using an identical

method of treatment for another genetic eye

disorder, LeberÕsCongenital Amaurosis, made

international news and resulted in significant

vision improvement for the study participants

who were near or totally blind.

Who else may benefit from this research?

A successful treatment for CHM is considered

as a stepping stone to treatments for more

common genetic retinal disorders such as

macular degeneration and retinitis pigmentosa.

This research will also advance the knowledge

needed for treatment of a variety of other

common genetic disorders.

Want to learn more?

If you would like to learn more about our work,

please visit our website at

You may also contact us for more information

or if you would like for someone to speak to

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