National Institute of Neurological Disorders and Stroke (NINDS)
COMPLEX GENOMIC REARRANGEMENTS IN NEUROLOGICAL DISEASE
The goal of this project is to investigate complex genomic rearrangements (CGRs) that consist of more than one simple rearrangement, and have two or more breakpoint junctions formed during the same mutational event. Characterization of rearrangement products, ascertained by virtue of a conveyed neurological disease phenotype, can provide insights into genomic rearrangement mechanisms
[2007/04/01-2018/07/31]
R01 NS058529
LUPSKI, JAMES R. (PI)
NIH/NHGRI
BAYLOR-JOHNS HOPKINS CENTER FOR MENDELIAN GENETICS
Baylor College of Medicine (BCM) and the Johns Hopkins University School of Medicine (JHUSOM) seek to determine the molecular basis of the great majority of human Mendelian phenotypes by establishing the Baylor-Hopkins Center for Mendelian Genomics (BHCMG).
[2011/12/01-2019/11/30]
5U54HG006542
VALLE, DAVID (PI) / LUPSKI, JAMES R. (PI)
NIH/NIGMS
MUTATIONAL SIGNATURE OF CHROMOSOMAL REARRANGEMENT MECHANISMS
This project seeks to understand how chromosomes change in structure by studying characteristics of human gene copy number changes. These changes lead to inherited genomic disorders, cancer and cancer progression, and therapy resistance. Study of these mechanisms has the possibility of informing strategies to minimize their effects.
[2014/09/01-2018/08/31]
R01GM106373
HASTINGS, PHILIP J. (PI) / LUPSKI, JAMES R. (PI)
