Usher syndrome is a rare inherited genetic disorder characterized by hearing loss, vision issues, and balance or vestibular problems for some. This disorder is caused by mutations, or errors, in 13 known genes and is typically passed down from one generation to the next. As an autosomal recessive disorder, an individual must inherit a copy of the mutated gene from each parent to develop Usher syndrome. If an individual only has one mutated copy, they are a carrier, often unknowingly. The diagnosis of an offspring can be a complete surprise, leading to feelings of shock, disbelief, fear, anxiety, guilt, and helplessness. Finding accurate information and resources can be daunting since Usher syndrome only affects approximately 400,000 people out of a global population of 8.1 billion.

The Usher Conundrum is my passion project as a response to this. My family has a history of Usher syndrome, and I was diagnosed in 2021.. I have a Bachelor’s degree in Biological Sciences, studied molecular and cellular biology, and worked for over 25 years in the genomics (genes) and proteomics (protein) space. Understanding this disorder, finding tools and resources to navigate life, and keeping up with clinical trials and potential future treatments can be overwhelming. Here, I combine my education, expertise, insights, and passion to distill the complexities of Usher syndrome into simple, easily digestible concepts to help you navigate your USH journey.