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Eccles Institute of Human Genetics
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Research Areas

Disease genetics
If we inherit an abnormal gene from our parents, some physiological function guided by that gene might malfunction and cause a disease. Changes in our genes that lead to disease might also occur during our lifetime. Identifying these critical genes and figuring out how a mutation of them can disrupt normal body processes is the study of disease genetics. Results from this work are used to devise very specific treatments for disease.

Genomics and technology
With the completion of the Human Genome Project, scientists can use the resulting technology and data to conduct powerful investigations into gene function. For instance, with microarrays and gene chip, scientists can find out which specific genes are active in a particular cell. With new software, genomes of different organisms can be compared to infer protein function. Using genomics, scientists are piecing together the big picture of how organisms function.

Developmental genetics
From a fertilized egg cell to birth as a newborn baby, our genes dictate our development. How do genes tell a tiny embryo to produce complex structures such as limbs and spinal cords? The study of developmental genetics gives us insights into the amazing process by which a fertilized egg becomes a complete organism.

Gene decoding
Genes are the information carriers, or "parts list," but proteins are the molecules that do all the work that makes us function. How is a protein made from the information contained in a gene? The process is not as simple as we once thought. In some cases, the normal translation process produces proteins of unexpected size or composition. Scientists are examinig the gene decoding process to understand what influences cause such changes.

Population genetics
Moving from the "micro" level of genetics (directing cell function, growth, and development) to the "macro" level, we see that our genes make us similar to or different from each other. Inherited (or genetic) characteristics such as height, hair color, and race are a few examples. Each characteristic has many variations; hair color can be black, brown, red, blonde, white, or gray, for example. Statistical analysis of such variations is used to determine how they are passed from generation to generation. Our researchers use population genetics to identify and track variations that produce genetic diseases and to study historical issues such as the evolution of humans.


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