NIH announces a Model Organisms Screening Center for rare genetic disorders

HOUSTON – (April 6, 2016) – Baylor College of Medicine in collaboration with the University of Oregon has been named as the Model Organism Screening Center (MOSC) for the National Institutes of Health’s (NIH) Undiagnosed Disease Network (UDN), a national center established to study biological functions of novel genes that cause rare or undiagnosed genetic disorders. 

Dr. Hugo J. Bellen, Howard Hughes Medical Institute investigator, professor at Baylor College of Medicine and investigator at the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s Hospital and a renowned neuroscientist will spearhead MOSC. Baylor already serves as one of the seven clinical sites and one of the two DNA Sequencing Cores for the UDN. 

Roughly 30 million Americans, many of whom are children, have a rare genetic disorder. Collectively, it is a diverse group of more than 7,000 diseases, most of which have no treatments. While recent advances in genome sequencing technologies have revolutionized identification of novel disease-causing genes, lack of knowledge about how they function, is proving to be a roadblock in developing treatments.

MOSC has been established to address this issue. It will comprise of the Drosophila (fruit fly) Core and the Zebrafish Core. The Drosophila Core will be led by Drs. Michael Wangler and Shinya Yamamoto, assistant professors at Baylor and NRI investigators, while zebrafish studies will be performed in the labs of Drs. Monte Westerfield and John Postlethwait at the University of Oregon. “This is personalized translational medicine at its finest and we are very excited to be part of the UDN to help patients and families understand the cause for their genetic conditions,” says Yamamoto. 
 
Flies and fish are ideal candidates to model human diseases because of their easy amenability to genetic manipulations, low-cost and short life-cycles. Also, their genes are highly functionally conserved to humans, i.e., information obtained from these studies may be applicable for future preclinical development.
First, DNA of the patients enrolled in UDN’s clinical sites will be sequenced to identify the causative genetic mutations followed by extensive functional studies of fruit fly, zebrafish and human versions of that gene at MOSC. For many patients and their families, who have long struggled to understand what is wrong with their child, these studies could provide a definitive diagnosis, allowing them to seek out appropriate genetic counseling and support from similarly-affected families. It is hoped that in the long-term, MOSC’s studies will identify novel targeted treatments for many rare genetic disorders.
 

About Texas Children’s Hospital

Texas Children’s Hospital, a not-for-profit health care organization, is committed to creating a healthier future for children and women throughout the global community by leading in patient care, education and research. Consistently ranked as the best children’s hospital in Texas, and among the top in the nation, Texas Children’s has garnered widespread recognition for its expertise and breakthroughs in pediatric and women’s health. The hospital includes the Jan and Dan Duncan Neurological Research Institute; the Feigin Center for pediatric research; Texas Children’s Pavilion for Women, a comprehensive obstetrics/gynecology facility focusing on high-risk births; Texas Children’s Hospital West Campus, a community hospital in suburban West Houston; and Texas Children’s Hospital The Woodlands, a second community hospital planned to open in 2017. The organization also created the nation’s first HMO for children, has the largest pediatric primary care network in the country and a global health program that’s channeling care to children and women all over the world. Texas Children’s Hospital is affiliated with Baylor College of Medicine. For more information, go to www.texaschildrens.org. Get the latest news by visiting the online newsroom and Twitter at twitter.com/texaschildrens.