Provide state-of-the-art clinical cytogenetics services to physicians and their patients with an emphasis on quality and timeliness
Determine the role of genes in the biology of uterine fibroids with a goal to the development of individualized treatment and a contribution to the understanding of neoplasia
Identify and characterize cochlear expressed genes for their role in hearing and in deafness disorders, and to characterize a mouse model for the deafness and vestibular disorder DFNA9
Identify genes involved in human development as part of a multi-institutional positional cloning endeavor, Developmental Genome Anatomy Project (DGAP)
Make cytogenetic methods accessible to the greater cancer research community
A professional staff of 11 cytogeneticists based at BWH continues to provide coverage for BWH, MGH, DFCI and BIDMC.
Genotyping on affected sib pairs and kindreds with fibroids confirmed a candidate chromosomal region for a predisposition gene and progress continues in recruitment of affected sib pairs towards a genome-wide scan (www.fibroids.net); a new study was initiated to address the molecular mechanism underlying the predisposition gene.
116 chromosomal breakpoints are mapped now within a single clone in 72 cases of developmental disorders and 37 breakpoints disrupt genes.
Oversee the commercial-sized Cytogenetics Laboratory to provide the highest quality of service
Continue investigations into the role of high mobility group protein genes in uterine fibroids and use positional cloning techniques and gene expression chips to identify other genes involved in uterine fibroids
Continue analysis of cochlear transcripts for candidate positional gene discovery efforts, to characterize further novel genes expressed in the cochlea, and to characterize the mouse model for the human deafness and vestibular disorder DFNA9
Expand the collection of balanced chromosomal rearrangements from individuals with congenital anomalies as a biological resource to identify genes critical in human development, to further studies of candidate and disrupted genes
Obtain funding for a new gene discovery effort in neoplasia (TGAP, Tumor Genome Anatomy Project) as a part of the Human Cancer Genome Project