There are over 200 million rare diseases that affect people worldwide and it is estimated that over 80 percent of rare diseases have a genetic origin. Although each disease is rare, when you add all of the rare diseases together, they are actually surprisingly common. Some estimate that 1 in 10 people will be affected by a rare, undiagnosed condition themselves or in a family member.
The difficulty is that since each disease occurs so rarely in the population, they are often difficult to diagnose. This can lead to individuals going for years without receiving any answers about the cause of their disease. This is often a painful process for both the individual and their family members and can be frustrating for the clinical providers involved.
In this tutorial, we consider the case of Leah, a female patient who was born healthy, but showed evidence of seizing at her 2 month checkup. Despite significant medical interventions, including several gene panels, a 24-hour EEG, blood, urine, and CSF analysis, her condition worsened and the pathology of her disease remained unknown.
Eventually, physicians began to suspect a rare genetic variant as the cause of her symptoms. Using the Tute Genomics platform, teams at Tute Genomics and Affiliated Genetics were able to find a very likely causative variant in the SCN8A gene. With this information, Leah’s family was able to find support groups and specialists for Leah’s specific condition.
Identifying causative variants for rare diseases is a common problem for clinical providers and labs. The Tute Genomics platform allows any provider to perform the in-depth analysis required to make a diagnosis for a rare disease using only a few simple steps. In this tutorial, we walk you through each of these steps using Leah’s case as an example.
Interested in learning more about this story? Check out this webinar given by Reid Robison, CEO of Tute Genomics.