History of the Choroideremia Research Foundation, Inc.
In the mid-nineties, a computer student noted his personal struggle with Choroideremia on his web page. Over time, as more and more people joined the computerized world, they formed an email list-serve in 1996. This list serve of persons like himself whose lives were affected by CHM, men with CHM, spouses of those affected, parents of affected kids and friends all joined together to share their successes, frustrations, information about CHM, and what it’s like to deal with this eye disease on a daily basis. Before this group found each other via the internet, most did not know another person with CHM other than another family member, such as a brother or uncle.
Finally, each found someone who understood what it’s like to have CHM. As one member says when greeting new members of the group, “Welcome to the home you always knew you needed but could neither find nor define”.
As this group grew, it became apparent they needed to find a treatment or cure for Choroideremia. It is estimated there is one person with CHM in 50,000; or in the United States, this would be about 6,000 people out of 300 million. As CHM is so rare, there is no celebrity spokesperson, no publicity, and no major charity helping to fund CHM research.
In 1999, discussions began among the group on the best direction they should take to help push CHM research forward. Options such as lobbying Congress, working to raise funds and direct them through the Foundation Fighting Blindness, forming a small affiliate group of the FFB, etc., were all discussed. The first mention of forming their own separate entity dedicated to raising funds for CHM research, raising awareness of CHM in the scientific community and reaching out to those in the CHM community for mutual support came from Bobby Jarrett of Chicopee, Massachusetts. In an email to the group, he mentioned that many voices are better than one, and by joining together as an official organization, we could make our voices heard.
Towards the end of August in 1999, John Oster emailed the group a draft of what would eventually become the Mission Statement of the Choroideremia Research Foundation. A volunteer steering committee was formed soon after, and work began in earnest on the formation of this organization. Seven initial Board members were chosen, Bylaws and a Mission Statement were written and approved, and in March of 2000, the Choroideremia Research Foundation, Inc. became an official entity. The dream of a few people of an organization dedicated to the elimination of Choroideremia had become a reality!
This euphoria was dampened by the loss of founding member and initial Board member Bobby Jarrett, who passed away in late May of 2000. One of the driving forces behind the forming of the CRF, Bobby knew the potential of this group, but unfortunately never saw the potential become the reality it is today. This site is dedicated to his memory.
In August of 2000, the first Annual Meeting of the Choroideremia Research Foundation was held in Orlando, Florida. Revisions to the Bylaws were voted on, Officers were elected and installed, and the first serious talks on how to raise funds and promote the CRF were held. A year later, the CRF applied for and received its 501(c)3 designation from the United States government.
Since then, more and more people have found the CRF through internet searches, through word of mouth, and now that doctors are
becoming more aware of the CRF, they refer their patients to the CRF website.
The CRF is now a major source of support and information on Choroideremia. The National Organization for Rare Disorders, Inc. now recognizes the CRF as a source of information about CHM in general, as well as information on the latest research being conducted around the world. The Foundation is in contact with specialists around the world and shares any breaking news on research with our membership.
When the CRF first formed, one of the largest hurdles for researchers was the lack of a Choroideremia animal model available for doctors to use in their research. CHMers lack a protein called RAB Escort Protein-1 or REP-1. The lack of this protein is what causes blindness in a CHM patient, but when you remove this same protein from any other animal besides a human, the animal will die.
With the aid of funding by the Choroideremia Research Foundation, this impasse was overcome by Dr. Miguel Seabra of Imperial College in London with the creation of a viable CHM mouse model in 2004. This breakthrough paved the way for the first Human Clinical Trials to treat Choroideremia using Gene Therapy, which are currently on-going at Oxford University in the UK under the leadership of Dr. Robert MacLaren.
Dr. Jean Bennett of the University of Pennsylvania launched the United States’ first Gene Therapy trials to treat CHM in February 2015, and Dr. Ian MacDonald began the first Gene Therapy trials in Canada to treat CHM in the Spring of 2015.
Just a few years ago, a person diagnosed with Choroideremia was given little information about CHM, told there was little research going on, and no hope for a viable treatment or cure. Due to funding provided by the CRF, this outlook has changed. Now, it is no longer a question of “if” a treatment or cure can be found, it is now a question of “when.”
Due to the work of the CRF, there is now real hope for CHMers around the world. With your help, this hope will soon become the reality of a treatment or cure!