NEW YORK (GenomeWeb News) – a newly formed foundation said this week that it is working with researchers at the National Center for Genome Resources on a multiplex test for rare genetic diseases.
The Beyond Batten Disease Research Foundation, which was recently founded in Texas and is supporting research efforts into finding a cure for the rare childhood disease, said that it expects an initial screening test for around 75 diseases to be ready in the fall of this year. The foundation did not say what technologies will be employed in developing the test.
Mark Chandler, a founding member of the board of directors of the foundation, said in a statement, "We are working to develop one easy and inexpensive blood test to detect the gene mutations for hundreds of rare diseases. The science is possible today. We just need the support of volunteers and financial donors to make it happen."
Batten disease is an autosomal recessive disease that affects the nervous system in childhood. Children who have the inherited, fatal condition suffer from vision loss and seizures. There is no known cure for the disease, which occurs in an estimated two to four out of every 100,000 live births.