Biomedical ApplicationsGenetic material contained in each cell is organized into structures called chromosomes. The coiled DNA that makes up each chromosome contains many genes, which reside at specific locations along the length of the chromosome, making comparisons between individuals not only possible, but also informative. Humans normally possess 46 chromosomes that contain approximately 22,000 different genes. The normal development and function of individual cells in an organism, and ultimately the whole organism, is highly dependent on accurate packaging and replication of its genetic material. Thus, being able to assess the structural integrity, of each chromosome, including the order of genes in relation to their neighbors, provides important information that determines what is normal and what is abnormal, and ultimately can be used to diagnose genetic disease processes or inherited disorders. Common types of chromosomal abnormalities include changes in gene copy number, gene rearrangements between chromosomes (for example, translocations), or within chromosomes (for example, inversions), which can result in mutations and even create new (fusion) genes that may be associated with disease pathogenesis, (for example, cancer). Molecular cytogenetics is a science involving the study of the molecular organization and function of chromosomes. To interrogate chromosome structure and rearrangement, specific tools are required that allow one to see under a microscope whether a chromosome is organized in a normal or abnormal way. KromaTiD is at the leading-edge of developing proprietary ‘paints’ that literally color a specific piece (or “side”) of each chromosome so that when chromosomal rearrangements occur – whether between or within chromosomes – they can be easily and readily detected in a clinical cytogenetics laboratory. The KromaTiD technology extends current chromosome painting methodology, allowing detection of very small inversions that would be otherwise invisible (cryptic) to standard assays. KromaTiD is developing a complete set of paints so that the entire human genome can be interrogated, and the specific occurrence and location of previously unknown inversions can be identified and associated with disease. It is well established that cancer pathogenesis is often associated with genetic alterations to normal cells. Further, such changes can also allow cancer cells to evade treatment strategies targeted at their destruction. Therefore, KromaTiD technology will be of great medical benefit as it guides development of new cancer diagnostics, improving not only diagnosis, but also therapeutic and prognostic determinations. In addition to cancer, inversions have been associated with neurological disorders like autism and other developmental disorders of unknown etiology, as well as cardiovascular diseases like hypertension. |
It is well established that cancer pathogenesis is often associated with genetic alterations to normal cells. Further, such changes can also allow cancer cells to evade treatment strategies targeted at their destruction. Therefore, KromaTiD technology will be of great medical benefit as it guides development of new cancer diagnostics, improving not only diagnosis, but also therapeutic and prognostic determinations. In addition to cancer, inversions have been associated with neurological disorders like autism and other developmental disorders of unknown etiology, as well as cardiovascular diseases like hypertension.
