Novel Mutations Discovered In Cats Provide Insight Into Human Eye Diseases

SAN MATEO, Calif., Oct. 16, 2014 /PRNewswire/ -- Researchers from the University of Missouri and the 99 Lives Cat Genome Sequencing Initiative today announced groundbreaking discoveries of novel mutations in the cat genome found to correlate to two human eye diseases, retinitis pigmentosa and Leber's Congenital Amaurosis.  The 99 Lives Cat Genome Sequencing Initiative is a joint project between the University of Missouri, the University of California, Davis and industrial partners. The Maverix Analytic Platform was used to analyze this data, and Maverix hosts the Initiative's genome and analysis data in a publicly-accessible "Community of Discovery."

Leber's Congential Amaurosis (LCA) is a rare inherited eye disease that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. LCA is one of the most common causes of blindness in children. With onset at birth or early in life, two to three per 100,000 newborns are born with LCA.  Persian cats can suffer from autosomal recessive progressive retinal atrophy (PRA), a disease similar to LCA. Association studies of Persian cats localized the causal gene for Persian PRA to cat chromosome E1, which is homologous to human chromosome 17. Whole genome sequencing revealed mutations in the gene AIPL1. A variety of mutations in AIPL1 have been identified as causes of various types of LCA in humans.  

By finding that the putative causative mutation for Persian PRA is in the gene that can cause LCA in humans, researchers may be able to develop models to better understand the disease pathways associated with this rare eye disease and ultimately develop diagnostic and screening tests that will improve treatment.

Retinitis pigmentosa is a condition affecting about 1 in 4,000 people in the United States. Cells in the retina controlling night vision are most likely to be affected, and symptoms include decreased vision at night or in low light, and loss of peripheral vision, commonly known as "tunnel vision."  Symptoms often first appear in childhood but severe vision problems often do not develop before early adulthood. The whole genome sequencing of a Bengal cat found a causative genetic mutation for retinitis pigmentosa, which can serve as a model for research leading to better understanding of the causes and potential treatments for this condition in both cats and humans.

"We are thrilled that the whole genomic sequencing of cats has led to such impactful discoveries which we believe can provide an efficient and effective model for research into eye diseases affecting humans," said Leslie Lyons PhD, Gilbreath-McLorn Professor for Comparative Medicine at the University of Missouri-Columbia. "Using whole genome sequencing enabled us to find this mutation, which would not have been possible using traditional microarray technology."

"To whole genome sequence cats with disease traits as a routine tool will unravel simple and complex traits relevant to human health," said Barbara Gandolfi PhD, Research Assistant Professor at the University of Missouri-Columbia. "With the help of the Maverix Analytic Platform, our first identified mutation associated with a progressive retinal atrophy in Persian cats provides a model for the study of blinding disease in humans."

"We are pleased that the discovery of these novel mutations in cats has tremendous implications to further the understanding of LCA and retinitis pigmentosa," said Dave Mandelkern, President and co-founder of Maverix Biomics. "We are excited that the 99 Lives Cat Sequencing Initiative is helping to advance state-of-the-art healthcare for cats as well as to help improve human health."

Access to the 99 Lives Cat Genome Sequencing Initiative public data sets and visualization of the data within the UCSC Genome Browser are available at no cost to researchers. Performing new data analytics, exploration, or other visualization is possible for additional fees, with substantial discounts for academic and not-for-profit research organizations.

About the 99 Lives Cat Genome Sequencing Initiative
The 99 Lives Cat Genome Sequencing Initiative is a project designed to sequence the genome of 99 cats in order to improve coverage and future assemblies of the cat genome; identify genotypic variation across a large number of cats with diverse genetic backgrounds, helping to identify causative mutations for specific health conditions in cats which may also be relevant to humans; and increase the value of individual cat genome sequencing by veterinary hospitals providing state-of-the-art health care. For more information visit http://felinegenetics.missouri.edu/ninety-nine-lives/2

About the Maverix Analytic Platform
The Maverix Analytic Platform is a cloud-based solution designed for use directly by life sciences researchers who may not have software or bioinformatics expertise. It leverages proven open-source algorithms and applications developed at leading academic and research centers. After loading sequence data from any organism (human, animal, plant, or microbe), researchers are able to immediately perform analyses with reliable, scientifically vetted configurations, as cited in peer-reviewed journal publications. Visualization is provided through a variety of integrated graphical tools, including a private, secure version of the UCSC Genome Browser, the world's most widely used genome browser.

About Maverix Biomics
Based in San Mateo, CA and backed by leading venture capital firms and Silicon Valley investors, Maverix Biomics, Inc. provides researchers with a cloud-based platform to manage, analyze, and visualize genomic data, build Communities of Discovery, and place their data in context with the latest public data from the full spectrum of life, including human, plant, animal, or microbial organisms. For more information, visit www.maverixbio.com.

NOTE TO REPORTERS: Barbara Gandolfi, PhD, Research Assistant Professor at the University of Missouri-Columbia will be presenting a poster on these findings from 4:00PM to 5:00PM on Sunday, October 19, 2014 in the "Molecular Basis of Mendelian Disorders" session at the 64^th Annual Meeting of the American Society of Human Genetics, to be held at the San Diego Convention Center in San Diego, California. For more information or to schedule an interview with Dr. Gandolfi, please call Dave Mandelkern at 415-531-4238 or email [email protected].

SOURCE Maverix Biomics, Inc.

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