Creutzfeldt-Jakob Disease Foundation

As not much is known about the risk factors for sporadic CJD, we are sequencing the exomes (coding portion of the genome) of ~250 sCJD patients. We plan to utilize specialized analysis programs and techniques to perform case-control analyses as well as look for associations with rare variants and copy-number variants and disease status. We will also compare these results with those of other neurodegenerative diseases to look for potential overlap with the neurodegeneration process more generally. For this last step we will make use of the thousands of Alzheimer Disease, frontotemporal dementia and Parkinson Disease samples currently available to us here at Washington University. We hope to use this as pilot data to get additional funding to sequence ~4,000 more samples available to us through our collaboration with the National Prion Disease Pathology Surveillance Center.

About the Researchers:

Dr. Brooke Sadler received her PhD from Arizona State University in Evolutionary Genetics in 2014. She completed her postdoctoral training in 2019 in the Department of Neurology at Washington University School of Medicine. During this time, she worked in the human genetics laboratory of Dr. Christina Gurnett, where she was a bioinformaticist. She recently accepted a faculty position in the department of Pediatrics, though she still collaborates often with her colleagues in Neurology. After her father died of sporadic Creutzfeldt-Jakob disease, she decided to dedicate some of her time towards researching the underlying genetic cause. Her recent publications can be found here.

Dr. Gabe Haller received his PhD in human statistical genetics from Washington University in St. Louis in 2013. His lab focuses on determining the genetic underpinnings of multiple neurological disorders including sporadic Creutzfeldt-Jakob disease (sCJD), Chiari I Malformation, syringomyelia, hydrocephalus and subarachnoid hemorrhage (SAH).

Dr. Sadler and Dr. Haller are the recipients of:

• The CJD Foundation Grant, contributed by the Families of the CJD Foundation
• The Tom Stivison Memorial Grant, contributed by Cookie Stivison
• The Jeffrey A. Smith Memorial Grant, contributed by The Jeffrey and Mary Smith Family Foundation
• The Strides for CJD Grant, contributed by the Families of the CJD Foundation