0:00 First-time biomarkers for Batten disease
6:00 Proteomics for early cancer detection
11:20 Challenge of serum samples and too few samples
16:55 First genomics, now we work our way down the chain of biology
22:15 Looking forward
Batten disease is a group of neurodegenerative lysosomal storage disorders that result from pathogenic variants in one of 13 CLN genes. Collectively, Batten disease affects approximately 1 in 100,000 individuals worldwide, making it the most common pediatric neurodegenerative disorder. The most common form of Batten Disease, CLN3 disease, is a rare and fatal autosomal recessive disorder caused by mutations in CLN3. Individuals with CLN3 disease typically experience vision loss in early childhood, followed by seizures, motor and cognitive decline, and premature death by the third decade of life.
Importantly, despite decades of intense research, specific biomarkers of disease status have not been reported, hindering the clinical development of therapies.
Today, two researchers join us to talk about how their use of new proteomics tools has pushed their biomarker research forward in novel ways.
Jon Brudvig is the Director of Discovery Research and Gene Therapy at Amicus Therapeutics, where he leads biomarker discovery in neurogenerative disease. He is also an Assistant Professor in Pediatrics at the University of South Dakota.
Bruce Wilcox is the Chief Technology Officer at PrognomiQ which is focused on early cancer detection and treatment.
“Proteomics technology and the enthusiasm for it are advancing rapidly. Proteomics is at the stage where it is translating to tools that will help physicians and patients,” says Bruce. "It’s a lot of fun to talk about what we work on, not just from a research standpoint, but for the impact that is coming from this work."
Turning to Next Gen Proteomics for Novel Biomarkers: Jon Brudvig and Bruce Wilcox