Batten Disease Support and Research Association collaborates to give families the opportunity to participate at its Annual Family Conference
NEW YORK, NY (July 23, 2014) – The New York Stem Cell Foundation (NYSCF) and Beyond Batten Disease Foundation (BBDF) have partnered to develop stem cell resources to investigate and explore new treatments and ultimately find a cure for juvenile Batten disease, a fatal illness affecting children.
NYSCF scientists will create induced pluripotent stem (iPS) cell lines from skin samples of young people affected by juvenile Batten disease as well as unaffected family members. IPS cell lines are produced by artificially “turning back the clock” on skin cells to a time when they were embryonic-like and capable of becoming any cell in the body. Reprogramming juvenile Batten iPS cells to become brain and heart cells, will provide the infrastructure needed to investigate what is going wrong with the cells adversely affected by the disease. Thus far, efforts to study juvenile Batten disease have been done using rodent models or human skin cells; neither of which accurately mimic the disease in the brain, leaving researchers without proper tools to study the disease or a solid platform for testing drugs that prevent, halt, or reverse its progression. This will be the largest and first genetically diverse collection of human iPS cells for a pediatric brain disease.*
Your generous donations are supporting inspiring and promising researchers who are committing their careers to finding a cure for Batten disease. Mark Schultz is one such researcher who recently graduated with a Ph.D. with the help of BBDF funding in partnership with Batten Disease Support and Research Association (BDSRA). Mark has and will continue to devote his career to finding a cure for Batten disease. Read Mark’s story below.
My first exposure to juvenile Batten disease occurred during an undergraduate neurobiology course at Wartburg College when I was assigned to write a paper discussing the current status of juvenile Neuronal Ceroid Lipofuscinosis (JNCL, juvenile Batten disease) research. I recognized that there were a lot of unanswered questions on the basic function and location of juvenile Batten disease protein, CLN3, preventing the development of effective therapy. One year later, while applying to graduate schools in medical research, I recognized the name of prominent JNCL researcher, Beverly Davidson, Ph.D. My interest in JNCL was high. I sought out a position in Dr. Davidson’s laboratory at the University of Iowa and began my graduate career as a JNCL researcher.
We are in an exciting and hopeful place in Batten disease research history. Not very long ago, scientists were unsure of the genetic cause of juvenile Batten disease, why cellular processes go awry, and, because of this, were at a loss as to how to fix the problem. Today, we can identify mistakes in DNA that cause the disease. We understand much of what goes wrong and are even able to slow the disease in our animal models! With your support and funding from Beyond Batten Disease Foundation, researchers have identified three potential compounds that may be used to treat children with juvenile Batten disease and are looking for more.
Passion is our driver. Strategy is our compass. With your support, Beyond Batten Disease Foundation (BBDF) has developed a dynamic plan to diagnose and prevent juvenile Batten disease while at the same time investing in the most promising research to treat children and families living with the disease. Since the foundation’s inception in August 2008, we have made exciting progress. With help from donors, we have 1) developed an easy and inexpensive test to prevent Batten and hundreds of other rare and devastating diseases, and 2) invested in research projects and strategies that are accelerating progress toward a cure.
Beyond Batten Disease Foundation is spearheading a unique, cohesive strategy that incorporates independent scientific resources and collaborations with related funding organizations to drive research into Batten Disease. Watch the following video to see how Beyond Batten Disease Foundation is working with academia, the pharmaceutical industry, and government agencies to cross the “Valley of Death” between initial scientific discoveries and meaningful progress toward treatments and cures.