Resources

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Free Genetic Testing through Project CHMtest-tube

The Choroideremia Research Foundation is happy to announce that for a limited time, FREE genetic testing is available to anyone who has received a clinical diagnosis of CHM but has not undergone genetic testing.  This has been made possible through funding by the CRF and a generous donation by PTC Therapeutics (www.ptcbio.com).  Anyone interested in being part of a Clinical Trial or eventually being treated for CHM must have a Genetic Test confirming their CHM diagnosis.

To have free genetic testing performed through Project CHM, you can follow the following steps:

1.  Download the Project CHM Genetic Testing Voucher.  The completed form will be sent with your blood sample.

2.  Contact your doctor and have them complete the online request form at carverlab.org/request.  For method of payment, they should select “Voucher”.

3.   Have your blood sample drawn and sent to the Carver Lab including your voucher.

4.   In an effort to increase insurance reimbursement for genetic testing, we are asking all Project CHM participants to submit their testing to their insurance company.  You will receive an invoice from the Carver Lab marked PAID.  Please file this with your insurance carrier upon receipt.

5.  CRF is also asking all Project CHM participants to register with My Retina Tracker, an online patient registry.  Click here for more information about this confidential registry and to create an account.

Your doctor should receive the results of your genetic testing within 3 months and will share those results with you.  If you have not received your results within 3 months, contact your doctor and ask them to follow up with the Carver Laboratory.

Please note that the voucher expires on March 31, 2017.  Subject to available funds, this program may be extended so feel free to check back after this date.

Project CHM is a collaborative program between the CRF and the Carver Laboratory at the University of Iowa to provide genetic testing for those affected with CHM.  The Carver Laboratory is a certified non-profit laboratory that offers low-cost genetic testing for people with retinal diseases like CHM, and the CRF is proud to partner with them to assist people affected with CHM to complete genetic testing.

If you have been diagnosed by your doctor with Choroideremia, it is important to have your diagnosis confirmed through genetic testing.  A genetic test is typically performed on a blood sample and identifies the specific genetic mutation in your CHM gene.  A positive genetic test with a mutation in the CHM gene provides doctors with confirmation that you have CHM and not another similar retinal disease.

Genetic testing is mandatory for those who want to be enrolled in a clinical trial or other research study on CHM.  Genetic testing will also be required to receive any treatment for CHM once they have received regulatory approval.

 

At the end of the free genetic testing period, the cost of CHM genetic testing through the Carver Laboratory is $485 for the first family member tested.  If another family member has a positive genetic test for CHM through the Carver Lab, subsequent family members will cost $115.  If your family member had genetic testing done at a different laboratory, those results could also be sent to the Carver Laboratory for reduced cost.  Family includes any individual from your same bloodline but does not include relatives by marriage.

For more information, you can learn more about Project CHM and genetic testing at www.curechm.org/projectCHM.

 

Retinal Specialists

Dr. Eric Pierce – Massachusetts Eye & Ear Infirmary, Massachusetts General Hospital

Dr. Richard Lewis – Cullen Eye Institute, Baylor College of Medicine, Texas

Dr. Albert Maguire – Scheie Eye Institute, University of Pennsylvania

Dr. Richard Weleber – Casey Eye Institute, Oregon Health & Science University

Dr. Mark Pennessi – Casey Eye Institute, Oregon Health & Science University

Dr. Jacque Duncan – University of California San Francisco

Dr. Stephen Tsang – Edward S. Harkness Eye Institue, Columbia University, New York

Dr. Elias Traboulsi – The Cleveland Clinic, Cleveland, Ohio

Dr. Ian MacDonald – University of Alberta, Edmonton, Alberta Canada

Dr. Allessandro Iannaccone – Duke University, Durham, NC

 

If you are a Retinal Specialist and would like to be added to this list, please contact the CRF Operations Manager, Cory MacDonald at corymacdonald@curechm.org

 

 

CRF Facebook Page

If you are on Facebook and wish to keep abreast of breaking news on research and fundraising, click here to go to and “Like” the official CRF Facebook page.
Team CHM is on Facebook!
Team CHM raises critical funds to end blindness and find a cure for Choroideremia through athletic challenges. If you like to participate in athletic events or wish to support and follow Team CHM members as they run, jog, swim, bike & walk in support of the CRF, click here to join us on the Team CHM page!

 

Choroideremia Support Groups

For those living with CHM, whether it be parent, spouse or affected CHMer, there are a few avenues to get free support. These are all great resources for you to get information and input from people who are walking the same path you are. Please note: These links are provided for informational purposes. The CRF does not monitor content of these groups.
Email Support Group. To subscribe to the free email support group, send an email to: choroideremia-subscribe@yahoogroups.com
Choroideremia Facebook Group: If you are on Facebook and wish to join, click here to send a subscription request.

 

Choroideremia Research Foundation Wiki Page

So you would like to keep abreast of all the latest information on CHM Research? Visit the CRF Wiki Page to read articles addressing the many types of studies and research that are leading to a cure for Choroideremia! This page is being continuously updated, so be sure to bookmark it and return often. A very special and hearty “Thank You!” to CRF Member Randy Wheelock for setting up this page on our behalf!

 

Low Vision Products

Advantage Canes

Independent Living Aids – Low Vision & Blind Products

Maxi Aids – Products for the Blind and Low Vision

 

Other Resources

Pro Retina – CHM Page – Germany

Listing of Guide Dog Schools

State Agencies for the Blind

 All About Vision – General Eye Health Information
 Discounted Services for the Disabled


Disclaimer: The links on this page are provided for informational purposes only. The Choroideremia Research Foundation, Inc. does not endorse any particular company, organization or group.