Bringing new hope to those affected by frontotemporal dementia and other neurodegenerative diseases
Harnessing a deep understanding of the critical role that that lysosomal biology plays in neurodegeneration, we are driving the discovery of medicines with the potential to address disease at the cellular level and positively change the trajectory of diseases such as frontotemporal dementia, Alzheimer’s disease , amyotrophic lateral sclerosis, and Parkinson’s disease, providing new hope for patients, caretakers and families.
Imagine a loved one – your spouse, sibling, parent – transformed into an entirely different person right before your eyes. Once pleasant and warm, they become aggressive and volatile and engage in completely uncharacteristic behaviors. Frontotemporal dementia (FTD) is a devastating neurodegenerative disease that completely alters an individual’s personality and behavior, often in the prime of their lives. Unlike Alzheimer’s disease, which is typically diagnosed after the age of 65, FTD is often diagnosed between the ages of 45 and 65 and is marked by progressive and rapid nerve cell loss in the frontal or temporal lobes of the brain. This neuronal loss impacts memory, personality, behavior, language, and movement.
A subset of people with FTD have an inherited form of disease caused by mutations in the GRN gene, which codes for the protein progranulin. Progranulin is a protein known to play a key role in lysosomal function and innate immunity in the brain. Progranulin is targeted to lysosomes where it is processed into its biologically active subunits, granulins, which are responsible for maintaining normal lysosomal function. People who have an FTD-GRN mutation in one allele fail to produce sufficient progranulin, impacting the production of granulins in neuronal lysosomes, triggering progressive neuronal deterioration and eventually death. These individuals typically begin developing symptoms in their 50s and rapidly decline thereafter, with death occurring 5-10 years after the onset of symptoms.
While there are no current approved treatment options, new insights into the biology of disease are guiding experts to discover new therapies with the potential to delay the onset of symptoms and slow disease progression.
OPPORTUNITY FOR IMPACT
"He was always so gregarious and friendly and now he’s just angry – cursing all the time and pushing people away."
"They were married for 25 years and out of nowhere, he started having these affairs and doing things we never would have imagined possible."
"It’s like the words don’t connect. She has a hard time understanding what I’m saying and can’t seem to find her words."
"I knew something was wrong when he started missing important events. And then he started mixing up our childrens’ names, sometimes forgetting their names entirely."
FOR MORE INFORMATION ABOUT FRONTOTEMPORAL DEMENTIA, VISIT:
The range of diseases caused by neurodegeneration are cruel, gradually robbing patients of their sense of selfhood and independence while also flipping the worlds of their friends and family upside-down. These patients and caregivers serve as our inspiration for what we do every day, and we’re dedicated to creating treatments that will truly help them not only live a longer life, but a more meaningful one.
Gerhard Koenig, PhD
Co-Founder, President and CEO