Duncan NRI Model Organism Screening Core

Identifying genes responsible for rare or unknown disorders using traditional approaches can be extremely time-consuming and typically, takes several years or decades. The Undiagnosed Diseases Network (UDN) is a research study initiated in 2014 and funded by the National Institutes of Health to bring together clinical and research experts from across the United States to solve the most challenging medical mysteries using advanced technologies. 

The UDN comprises a Data Management Coordinating Center, Clinical Sites, and Core Facilities (“Cores”). The clinical sites, present in 12 cities across the US, are locations where UDN participants are evaluated. Baylor College of Medicine and Texas Children’s Hospital in Houston house one of 12 clinical sites. At all UDN clinical sites, doctors and healthcare providers like neurologists, immunologists, nephrologists, endocrinologists, and geneticists, come together to help find the cause of a participant’s symptoms. 

Specialized laboratory resources such as Sequencing Core at Baylor College of Medicine provide genome and exome sequencing services. The Model Organisms Screening Centers (MOSCs) located at Baylor College of Medicine, Washington University in St. Louis, and the University of Oregon, help network physicians and researchers understand how specific genetic changes contribute to disease by studying these changes in other organisms such as fruit flies, worms and zebrafish. The Metabolomics Core, located at the Mayo Clinic provides UDN researchers and clinicians with advanced tools to study biological markers potentially related to the disease.

The Baylor College/Texas Children’s MOSC is located at the Jan and Dan Duncan Neurological Research Institute and is spearheaded by Baylor faculty and Duncan NRI investigators Drs. Hugo Bellen, Shinya Yamamoto, and Michael Wangler. In close collaboration with physicians in various UDN clinical sites and research investigators in other MOSCs, they leverage the powerful genetic tools available in fruit flies to help physicians and scientists identify the disease-causing genes and study how mutations in that gene cause rare and undiagnosed disorders with the ultimate goal of identifying targeted therapies for such diseases.

Since 2018, the UDN MOSCs have contributed to the discovery of 39 new human disease genes and a better understanding of 12 previously identified disease genes.

Contact Dr. Hugo Bellen (hbellen@bcm.edu), Dr. Shinya Yamamoto (yamamoto@bcm.edu), or Dr. Michael Wangler (michael.wangler@bcm.edu) for more information and collaborations.