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Sifting through different branches of a family tree to pinpoint the mutations responsible for disease is difficult, even when the disease is caused by a single genetic mutation. One can only imagine how much more challenging it must be to understand the genetics of complex diseases that involve multiple genes. One example is the heritable cancer multiple myeloma, a devastating condition in which malignant immune cells regenerate in the bone marrow.

Huntsman Cancer Institute and Utah Genome Project investigator Nicola Camp, PhD, has taken a new approach to understanding the conundrum. She has developed a method that analyzes large, multi-generational families for

Mother and Daughter Smiling, Complex Disease

shared regions of the genome that are likely to harbor disease-causing genes. She and her team tested the approach by searching the genomes of 11 Utah families who were known to be at high-risk for developing the cancer.

Their analysis identified two candidate genes that lead to the disease ¾ USP45, involved in regulating DNA repair, and ARID1A, a key gene involved in packaging DNA inside the cell’s nucleus. If validated, the information could be used to predict who is likely to develop multiple myeloma so that they can take measures that could slow onset of the disease.

Camp is continuing to use this strategy to identify additional genetic risk factors that lead to multiple myeloma. The novel approach will be used to investigate causes other complex diseases, such as obesity, diabetes, and Alzheimer’s disease.