Gail Bruns, MD, PhD
| Hospital Title | Associate in Genetics |
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| Academic Title | Associate Professor of Pediatrics | |
| Phone | 617-355-7575 | |
| Fax | 617-355-7588 | |
| Gail Bruns | ||
| Location |
300 Longwood Enders-5 Boston MA 02115 |
Research Overview
Gail Bruns' research is focused on genes and chromosomal regions associated with human developmental anomaly disorders. She is particularly interested in the region of chromosome 11 that is deleted in the WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies and mental retardation). The genes in this region are important for normal development of the eye, brain, kidney and genitourinary system. The region also contains one of the genes for Wilms tumor.
Her laboratory has isolated a novel gene from a subregion of the deleted area that is implicated in at least part of the mental retardation component of the syndrome. It is predominantly expressed in developing forebrain. This gene is the index member of a new family of neural genes with that are homologous to those in the nematode (C. elegans) genome--an indication that they serve, or once served, a vital function. Bruns and her co-workers are also mapping the human genes that are homologous to genes that play key roles in developmental processes in the nematode, drosophila, zebrafish, and mouse.
About Gail Bruns
Gail Bruns is a graduate of the University of Rochester School of Medicine and Dentistry. She completed a residency in internal medicine at Barnes-Jewish Hospital.
Key Publications
- Sharon D, Bruns GAP, McGee TL, Sandberg MA, Berson EL, Dryja TP. X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. Investative Ophthalmology and Visual Science 2000; 41: 2712-2721.
- Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, et al. Human chromosome 7: DNA sequence and biology. Science 2003; 300: 767-772
- Bruns G. Wolman M. Morality of the privacy of genetic information: possible improvements of procedures. Medicine & Law 2000; 19: 127-39.
