Pelizaeus-Merzbacher disease is an inherited condition involving the brain and spinal cord, resulting in reduced neurological function. Those affected by the disease (an estimated 1 in 100,000 people) typically experience weak muscle tone, involuntary movements of the eyes, and delayed motor skill development.

In 2016 the Oregon National Primate Research Center (ONPRC)  received a $4 million grant from the National Institutes of Health (NIH) to develop a genomic database for rhesus macaques. Today, the database contains the genomic sequences of over 2,000 monkeys, which has enabled researchers to identify thousands of genetic variants identical to those known to cause human disorders.

Anne Lewis, D.V.M., Ph.D., head of pathology services at ONPRC, observed three young rhesus macaques displaying symptoms, including tremors and motor dysfunction, which were similar to those seen in  human  Pelizaeus-Merzbacher patients. Scientists at ONPRC were able to match her observations with data in the rhesus macaque genome database, helping other scientists to apply therapies to an animal model that closely matches the disease impacting humans. Additional research, led by scientists at Oregon Health & Science University (ONPRCs affiliated institution), could help develop new therapies to treat Pelizaeus-Merzbacher disease.

 “This really sets us up for the possibility of doing gene therapies, or neural stem cell-based therapies in the developing brain,” said Larry Sherman, Ph.D., professor in the Division of Neuroscience at the ONPRC.

To learn more about genome sequencing at the NPRCs, please visit here.