Three years ago, a rare disease was spawned that made its way into the medical field. Over 100 people gathered in San Diego to research the disease within a new foundation.
It’s caused by mutations in the DDX3X gene which results in a number of developmental disabilities and physical abnormalities in the brain. The majority of people diagnosed are female and are unable to walk or talk. There are about 120 cases in the world, but it’s suspected that the true number may be much higher. To learn more about this rare disease, click here.
Elliott Sherr, from UC San Francisco, has been researching this new disease since its inception, and is considered the leading authority on it. Now, parents and conference organizers are rallying together to raise funds in support of Sherr’s findings. The organization behind the fundraiser is DDX3X Foundation. His goal is to find a drug that will decrease the symptoms and bring upon regular brain activity.
To accomplish that, his research team is building a mouse model that will act as a template for testing possible drugs. If everything works in their favor, a drug could be ready to present to drug companies by 2021.
3-year-old Lucy Marina, from Point Loma, was diagnosed with the disease in 2014. This spurred her father, Dewey, to get involved with the foundation and organize the San Diego meeting. They received the bad news of their daughter’s disease through exome sequencing. What this method does is analyze DNA codes and scope out defective production of protein that is required for regular neural development.
For years, Dewey and Tiffani, struggled to figure out what was wrong with their little Lucy. Even after global developmental delay and 3 strokes, no doctor could diagnose her with any known disease.
“Having a name for the disorder was very important for us to try to wrap our heads around what was really happening,” Marino said in an interview with the San Diego Union-Tribune. “Seeing families that have progressed through adolescence with their girls helped us get an idea of where we were and what we should expect.”
This brand new foundation aimed toward a brand new disease had to establish worldwide outreach from the ground up. Today, they are making their mark in the world. If you would like to learn more about the organization and how you can help, click here.