"For an orphan disease like Batten, which has such a clear-cut course of deterioration and no present cure, this grant is transformative both for these families and for us, as clinicians and researchers."
A $1.2 million grant from the National Institutes of Health will bolster University of Rochester experts' research and care efforts for children suffering Batten disease, a rare neurological disorder that erupts without warning, stealing kids' sight, crippling their cognitive and motor capacities, and ultimately, taking their lives.
Only about 150 children in the U.S. are currently living with Batten disease; many of them are siblings, as parents who carry the Batten gene have a one in four chance of conceiving a child with the disorder. For these multiply affected households especially, the impossibility of finding answers and care can quickly become as trying as the illness itself.
“This is a devastating disease,” said pediatric neurologist and the grant's principal investigator, Jonathan Mink, M.D., Ph.D., who leads the University of Rochester 's Batten Disease Diagnostic and Clinical Research Center . “A million dollars for Batten research is vastly different than a million dollars for similar efforts for something like cancer. For an orphan disease like Batten, which has such a clear-cut course of deterioration and no present cure, this grant is transformative both for these families and for us, as clinicians and researchers.”
For the past five years, the research and patient care conducted by the university's Batten disease center has been buoyed by small grants from the Batten Disease Support and Research Association, a networking organization for affected families. But now, dispersed over the course of four years, the jolt in funding amounts to more than $1,200 per patient, annually – an impact roughly eight times that of the per-patient funding allotted to Alzheimer's research in 2005, and 18 times that awarded to autism research the same year.
But this investment, enormous for a disease affecting such a small segment of the population, is not just meant to bring hope to Batten disease; it will likely also inform research efforts for a dozen or so of its cousins – other uncommon genetic diseases, each characterized by a unique glitch in enzyme functions important to the body's toxin-ridding cells, the lysosomes. When these vital enzymes malfunction, or when they are lacking altogether, lysosomes cannot perform. The fallout is not unlike missing the garbage collector weeks in a row; the wastes pile up, swelling cells, interrupting cell business and ultimately destroying tissues and organs.
Some of these lysosomal-storage diseases, as they're called, include Krabbe disease (to which Buffalo Bills quarterback Jim Kelly lost his son, Hunter, in 2005), Tay-Sachs and metachromatic leukodystrophy. Research focused on this rare cluster of neurodegenerative disorders is best advanced when grassroots fundraising and awareness efforts, usually allied by a handful of emotive personal stories, combine with creative, top researchers and expert clinicians – like those in Rochester .
“This isn't heart disease or diabetes, with gluts of willing people willing to help with clinical trials and investigative efforts. The sample size is miniscule, comparatively, and shrinks further when you consider that patients are exceedingly fragile, mostly children, and dispersed all over the country. On top of that, these children represent a range of stages in neurodegeneration, which lends poorly to a typical research trials, where minimizing variation as much as possible is the ideal,” Mink said. “Really, this funding is just as much about us researching how one begins to do rare disease research as it is about researching Batten disease.”
Mink hopes that the methods Rochester researchers use to develop therapies for Batten-affected children can be rendered useful time and again, to help sufferers of other lysosomal storage diseases, and really, on a broader scale, to glean insight that may guide other researchers studying any rare disease.