Universal Screening for Recessive Childhood Diseases

In collaboration with, and funded by the Beyond Batten Disease Foundation (BBDF) based in Austin, TX, NCGR scientists are developing a test to identify the mutations that cause most recessively-inherited diseases that result in severe illness or death in children. Because each of these "orphan" diseases is rare, it has not made economic sense previously to develop individual tests for them for the US population. Collectively, however, they account for a substantial proportion of severe childhood illness. Under the leadership of Dr. Callum Bell, the NCGR team is developing a single DNA sequencing test for 448 diseases that will be offered in 2010 through a new diagnostic reference laboratory. The test will make use of NCGR.s prowess in genome sequencing, analysis and mutation detection (the Alpheus® software system). The partnership with BBDF has been very successful. In the words of Craig Benson, who started the foundation after his daughter's diagnosis with juvenile Batten Disease, "thanks to the expertise provided by NCGR, we are well on our way towards our goal of creating a universal carrier screening test that will prevent the suffering caused by Batten Disease and other devastating genetic diseases that affect children". NCGR scientist Dr. Darrell Dinwiddie reported results from the test prototype at a recent national conference at the Cold Spring Harbor Laboratory, NY.