New to the John and Marcia Nonprofit Genetic Testing Laboratory, Project Achromatopsia, otherwise known as "Project Chroma" is modeled after our "Project 3000" from which, at the time of this writing, we have identified 85% of children with LCA age 10 or younger and 50% of individuals between the ages of 11 and 20. The success of Project 3000 is the direct result of a unique cooperative effort between not only our major supporters, to whom we are most grateful, but also between the dozens of physicians and hundreds of patients who understand and value the significance of such a project. Now that treatments are underway for LCA (and other blinding eye diseases), it is more important than ever to spread the word about genetic testing.
Achromatopsia (ACHM) is an inherited eye condition present from birth. It is most often characterized by poor visual acuity, nystagmus, significant to extreme sensitivity to light and absent or severely reduced color vision (color blindness). Color blindness can be so complete that many affected individuals have no comprehension of the concept of color, while others with less severe symptoms may be able to discern very saturated colors under certain lighting.
A confirmed diagnosis is needed for proper management of the condition. While there are observable features and several tests that can contribute to the diagnosis of ACHM, a molecular genetic test that successfully isolates the specific genetic cause of the condition is the most definitive.
While not all disease-causing mutations have yet been identified, statistically speaking, to date we know that genetic variations:
- In the CNGB3 gene account for approximately 50% of all ACHM patients
- The specific genetic variation, Thr383 del1aC, is the single most common cause of ACHM (34%)
- An additional 36 different genetic variations have also been identified in 10 of the 18 CNGB3 exons
- In the CNGA3 gene account for about 20% of ACHM cases
- Sixty different genetic variations have been identified in the CNGA3 gene
- Seventy-eight percent of them occur in exon 8
- In the GNAT2 gene are responsible for approximately 2% of ACHM cases
Studies have led to successful treatment of ACHM in animal models, thereby providing hope and optimism for the eventual development of human trials. For this reason, Project Chroma seeks to identify every person in the United States affected with ACHM and offer them state of the art genetic testing on a nonprofit basis through the John and Marcia Carver Nonprofit Genetic Testing Laboratory at the University of Iowa.
Project Chroma has four major goals
Many individuals affected with ACHM have been told directly or indirectly that "there is nothing that can be done" to improve/restore their vision. Project Chroma intends to reverse this message and make it clear that there is much that the estimated 1500 individuals with ACHM can do as a group to help combat this disease.
Provide accurate information.
By collecting some basic clinical information from hundreds of people affected with ACHM, doctors will be able to learn how each genetic subtype of ACHM behaves over time and will be able to use this information to give newly diagnosed individuals and their families more accurate information about what to expect.
Trials of new treatments for ACHM will require access to individuals affected with specific genetic subtypes of ACHM. Project Chroma seeks to identify as many individuals as possible with each genetic subtype so that clinical trials will never be slowed by a lack of affected individuals.
Make a genetic test for ACHM available to all who might benefit from one.
Many insurance companies are currently unfamiliar with the value of genetic testing for ACHM. By encouraging hundreds of individuals with ACHM to seek payment for their nonprofit genetic tests, Project Chroma intends to demonstrate the value of such testing to doctors and insurance companies across the country. As a result, genetic testing will become part of the "standard of care" for ACHM in the United States.
We maintain some additional information on ACHM. You may find this page useful if you're interested in ordering a clinical genetic test.