RESEARCH

Clinical Human Whole Genome Sequencing

Nic Volker and Howard Jacob at the grand opening of The Smith Family Clinic for Genomic Medicine

Working alongside other labs at HudsonAlpha and with The Smith Family Clinic for Genomic Medicine, the Jacob Lab implements whole genome sequencing of patients to determine the genetic changes that result in disease. A major focus in the lab has involved the study of rare diseases, which was initiated with the project to help save Nicholas Volker’s life, as can be read about in the Pulitzer-prize winning news series One in a Billion: A Boy’s Life, A Medical Mystery.

While each rare disease occurs in <200,000 individuals, the combination of all rare diseases amounts to a significant impact in the healthcare system. Rare diseases collectively are not rare, with more than 7,000 categorized results in over 25 million affected individuals in the United States. The lack of clear biological and molecular markers contributes to the failure for diagnosis. Whole genome/exome sequencing has emerged as a powerful platform to identify genetic contributions to undiagnosed diseases. Howard Jacob serves as the PI for the NIH U01, titled “Clinical Genome Wide Sequencing Core for the Undiagnosed Disease Network,” a project that hopes to bring answers to the thousands of people searching for the cause of their diseases.

For undiagnosed diseases, genomic sequencing (exome or genome) has improved the rate of diagnosis by at least 30 percent, leaving about 70 percent of the clinical cases with a list of Variants of Uncertain Significance (VUS) or variants identified in a Gene of Uncertain Significance (GUS). Therefore, characterization to determine the causal variant is still needed.

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