Baylor-Johns Hopkins Center for Mendelian Genetics

Project Description

Gene_seq (320x240)
Clinical Sequencing Research

This study is a collaborative partnership between the human genetics programs at Baylor College of Medicine and Johns Hopkins University School of Medicine, forming the Baylor-Hopkins Center for Mendelian Genomics. Mendelian disorders are caused by an inherited mutation in a single gene.

The goal of the project is to find and recruit samples representing rare (Mendelian) disorders by creating and utilizing a worldwide network of colleagues and former trainees to identify and recruit thousands of patients and families with unexplained Mendelian phenotypes or with undiagnosed disease that segregates in their families as Mendelian traits. Dr. Amy McGuire, co-investigator, and a committee of experts are overseeing the ethical issues arising in the conduct of this research.

Supported by: U54HG006542, National Human Genome Research Institute, NIH

Project Personnel

Principal Investigators

David Valle, M.D., Co-Principal Investigator
James Lupski, M.D., Ph.D., Co-Principal Investigator

Center Project Personnel

Amy McGuire, J.D., Ph.D., Co-Investigator
Stacey Pereira, Ph.D.
, Instructor

Publications

Gambin T, Jhangiani SN, Below JE, Campbell IM, Wiszniewski W, Muzny DM, Staples J, Morrison AC, Bainbridge MN, Penney S, McGuire AL, Gibbs RA, Lupski JR, Boerwinkle E. Secondary Finding and Carrier Test Frequencies in a Large Multiethnic SampleGenome Med, 7, 2015; 54.