Batten disease

Kealey Bultena

A treatment developed at Sanford Research is in clinical trial to help kids with a debilitating genetic condition. The FDA fast-tracked the study in part because the condition progresses quickly and children die.

Six patients are part of the Batten Disease trial. One family from the Midwest has a child treated.

Beth and Bryan live in Minnesota. At four years old, their son Blake struggled with fine motor skills. They incorporated occupational therapy. Then Blake needed speech therapy. Then his gross motor skills deteriorated, and he needed physical therapy.

Jill Weimer, Ph.D. recently was awarded $440,000 to support her research of a rare neurodegenerative disease called Batten Disease.  Weimer's lab is among only a few in the world studying the condition which primarily affects children that can cause seizures, blindness, motor and cognitive decline and premature death. Genetic mutations disrupt the ability of cells to dispose of waste and causes abnormal accumulation of proteins and lipids within nerve cells.  The grant funding will allow Weimer to screen several different treatment methods, which can include gene therapy or stem cells.

Sanford Researcher Wins $1.75 Million Grant

Jun 6, 2014

Sanford Research's Dr. Jill Weimer recently won a $1.75 million grant from the National Institutes of Health. Over five years, this money will help Dr. Weimer study intracellular trafficking in neurological disorders, including the rare pediatric Batten disease. Dr. Weimer joined the program to share her knowledge of Batten disease and how this grant will help expand knowledge of other disorders.