BBDF initially funded and led the development of a genetic test for over 620 medically devastating rare diseases. The team of scientists engaged to create the test at NCGR moved to Children’s Mercy Hospital for ongoing support of the product. The test is in a pre-launch phase, the final step before commercial development.
One beneficial aspect of this test is that it can be used to quickly diagnosis children to determine if they have these diseases. This will end the diagnostic odyssey that, until now, took an average of 2 to 3 misdiagnoses and 7.6 years. Another benefit is that it can prevent the occurrence of Batten and other rare diseases in future generations by allowing parents to partake in family planning screening to determine if they are both carriers of the diseases.
“Research from the development of the test revealed that all of us carry around 3 and probably more mutations that cause devastating rare diseases. That is why the test is so important for everyone, their children and grandchildren.”
-Callum Bell, Ph.D.
BBDF has collaborated with expert scientists to develop and provide this comprehensive test for physicians. The test was beta launched in 2012 and is currently being used as a diagnostic tool within Children’s Mercy Hospital’s network.
We are continuing discussions with several potential commercialization partners and intend for the foundation to benefit financially from the eventual public launch of the test.