Trailblazing research with Whole Exome Sequencing (WES)

Early adoption of Whole Exome Sequencing for characterizing human genetic diseases

Using WES in translational research was not common in 2010; in fact, no more than ten human genetic diseases had been characterized through exome sequencing at that time.

We used Whole Exome Sequencing to identify BANF1 mutation as the cause of an early onset, premature aging condition in two patients, who previously showed no mutations in any earlier described gene associated with accelerated aging diseases (known as progerias). Nestor-Guillermo Progeria Syndrome (NGPS) takes its name from these two index patients. Dr. Cabanillas was granted the prestigious ‘John Opitz 2012 Young Investigator Award’ for his paper describing this previously uncharacterized progeroid syndrome.

Since our discovery of NGPS, BANF1 analysis has been included in the standard evaluation of patients with progeria, leading to the identification of new patients with this puzzling condition and contributing to a better understanding of progeroid syndromes.

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