Diagnosing skewed X-inactivation in women - Tandem Repeat-based Identification of X-chromosome Inactivation (TRiXi)

Disease-causing mutations on the X-chromosome (‘X-linked’ disorders) typically only affect men. However, due to a genetic phenomenon called skewed X-inactivation (sXCI), thousands of girls and women in Europe also develop serious and often life-threatening X-linked disorders every year. As there is no reliable test for sXCI in humans, women carrying mutations are typically unaware of their risk, and when symptoms do develop, diagnosis is delayed. We have developed a method for quick, cheap and accurate detection of sXCI; Tandem Repeat-based Identification of X-chromosome Inactivation (TRiXi). We will take TRiXi from a cutting-edge research method to an in vitro diagnostic test for sXCI in female carriers of X-linked mutations. Following requests from clinical colleagues, TRiXi has been used to assess disease risk or confirm diagnoses for multiple life-threatening X-linked disorders in patients from Clinical Genetics Units across Sweden, confirming its real-world clinical utility and the unmet need for a standardized assay for sXCI in the clinic. TRiXi has additional commercial potential as a Research Use Only test kit to serve the large and expanding field of research into female medical health. I have filed a priority patent application for TRiXi, joined the business incubator at Linköping University, and assembled a team with expertise in business, patenting, and regulatory affairs to successfully translate my innovation. Over 1 million women are carriers of mutations for serious X-linked disorders, in Europe alone. This represents a large patient population requiring a better standard of care, that can be delivered by TRiXi, and a significant and largely untapped commercial potential. Over the next 18 months, we plan to: (i) establish a regulatory strategy for each market path, (ii) validate the unmet need through thorough market verification, (iii) continue IP protection, and (iv) finalize technical improvements/tests to prepare TRiXi for commercialization.