Our research group will actively pursue collaborations in disease gene discovery with other scientists, which will result in important findings. A distinctive aspect of our research is its focus on microdeletions, microduplications, balanced translocations, and on intellectual disabilities. As explained below, our official website serves a number of important functions related to this research. These include functioning as a searchable database for important data, making available any new papers from our research projects, and promoting collaboration with other scientists performing genetic research.
On this website, we have an extensive database of the breakpoint information on chromosomal rearrangements, including microdeletions, microduplications, balanced translocations, and balanced inversions from 24 different human chromosomes. The carriers of these chromosomal rearrangements have mostly intellectual disabilities and/or at least one other developmental phenotype. The website currently houses information on 115 unique cases. The breakpoint map presents this information with a visual representation of the 24 unique chromosome ideograms. The map serves as an easy way to navigate the website as well as quickly find the cases relevant to search queries. It also includes information about the location of balanced chromosomal abnormalities. Selecting a particular case will provide background information, such as the karyotype and phenotype, availability of lymphoblastoid cell line, DNA, and pedigrees.
By hovering over “Genomic Location” for a specific chromosome, a drop down menu appears which allows the user to see all the cases and phenotypes for that specific breakpoint location. All cases are HIPAA-compliant and do not divulge any personal patient information. Our website contains full PDF versions of our laboratory’s published articles in addition to autosomal recessive developmental disorder pedigrees and phenotypical information. These serve as an additional source of information for participating families, who may wish to know more about a particular research topic or about previous work. In the future, our website will also offer information about our laboratory’s work on microdeletions, microduplications, Body Integrity Identity Disorder (BIID), hypogonadotropic hypogonadism, Kallmann Syndrome, and other neurological disorders. This information will be presented with relevant case data and phenotypic information.
Finally, there is also a search function that allows the user to search for any particular phenotype or karyotype to obtain a list of results from that particular map. All cases are HIPAA-compliant and do not divulge any personal patient information, so as to comply with the confidentiality policy.