Until she was about a year old, Minna seemed like just your average, healthy baby girl. Soon, however, we started to notice some dramatic delays in her development and began the vigorous process of diagnosing the underlying cause. Finally, at 21 months of age, after full genome sequencing of her DNA, we were heartbroken to learn that she has Rett Syndrome.
Rett Syndrome is a very rare and severe genetic mutation that primarily affects females. Worldwide, Rett occurs in only 1 of every 10,000 female births. A child with Rett Syndrome will begin to experience impaired brain function between the ages of 6 to 18 months. This leads to diminished speech and motor skills, leaving many children with Rett Syndrome unable to walk, talk or use their hands. In addition, children often experience respiratory, feeding and GI issues, seizures, scoliosis and other challenges. Typically, girls with Rett only live until middle age.
However there is hope. Researchers are on the brink of finding a cure for Rett. We have partnered with the Center for Children with Rare Disorders (C4RCD) at TGen to fund groundbreaking research toward a cure. TGen's expertise in Rett syndrome continues to expand into new and exciting areas, augmented by its affiliation with City of Hope. TGen and City of Hope are focused on fixing the underlying genetic mutation that causes Rett Syndrome (mutations in the MeCP2 gene) by applying gene therapy approaches.
In addition, we are excited to announce that the C4RCD has been selected as a site for a Phase III pharmaceutical-sponsored clinical trial that will begin later this year, giving families hope for better treatment options in the near future. They are also taking a long-term research approach to understand the underlying mechanisms by which the MeCP2 mutation causes neurological dysfunction.
Please watch this insightful video to learn more about how TGen and City of Hope are leading the way in gene editing for Rett.
To make a gift in honor of Minna, in support of TGen’s Rett Syndrome research, please click the "Make a Donation" button on this page.
