In 2013, the parents of a teenage girl who suffered from a disorder known as ataxia, came to UCLA seeking answers. She’d previously been diagnosed with ALS, had a debilitating inability to swallow, and lack of normal movement in her body most of her entire life. After visiting UCLA, neurologists encouraged her to donate a blood sample for whole exome DNA sequencing, a sequencing of all 23,000 human genes.
The test revealed that the girl did not have ALS, but carried a mutation in a gene that causes an extremely rare syndrome called Triple-A, characterized by achalasia, Addison’s disease, and alacrima (AAA).
While there is currently no cure for AAA, due to the right diagnosis, the young woman’s life has improved significantly through surgeries that have mitigated symptoms. Should the disease fully manifest, there are steroids available to treat it.
As a result of this discovery, UCLA was able to newly diagnose and treat 20-25 percent of adults and one-third of the children with balance issues (ataxia), who were already patients of the clinic— a significant accomplishment made possible only through the study of a rare, unsolvable disease.
The diagnosis was in: Dylan had a rare genetic mutation in the Duchenne gene found on the x chromosome, thus affecting only boys. Duchenne Muscular Dystrophy is the most common fatal genetic disease for children, impairing production of the protein dystrophin— a requirement for healthy muscle function.
Dr. Stanley Nelson and his wife Dr. Carrie Miceli, both professors and scientists at UCLA, have devoted their careers to solving some of the world’s most difficult rare disease mysteries. When their young son, Dylan, began to show signs of developmental delay, they were heartbroken.
While the couple never could have imagined their lifesaving work would become so personal, Drs. Nelson and Miceli turned this unthinkable circumstance into zealously tackling an unmet need— the ability to link basic DMD research and clinical application, all in one place. Using their undeniably unique perspective, the doctors created one of the first-of-its-kind facilities in the Center for Duchenne Muscular Dystrophy in 2006. With the chance to receive new treatments that vastly improve quality of life, Nelson and Miceli take great pride and comfort knowing the center makes an immensely positive impact on the lives of thousands of boys and their families, including their own.
For many families, not knowing the diagnosis for a rare disease leaves them feeling unsure of the road ahead. Using whole exome sequencing, scientists at UCLA give one child a chance at a better future.
In 2012, a 10-month-old little boy arrived at Dr. Stan Nelson’s human genetics laboratory at UCLA, after tests from four previous specialists yielded no real diagnosis for his symptoms. The child showed clear signs of developmental delay and sever gastrointestinal issues. All the while, the family grew frustrated with no indication of what might be causing the illness.
Shortly after his first visit, the barely 1-year-old became the first patient to undergo exome sequencing at UCLA—one of the first in the country to apply the test. The results were decisive: the boy showed a mutation to the TCF4 gene, a rare disorder called Pitt-Hopkins syndrome. Armed with a diagnosis, the child received the right therapies earlier, tackling breathing issues, potential seizures, and new methods to learn to walk.
Without the precision of whole exome sequencing, physicians are oftentimes left to guess what disorders ail their patients, causing a lengthy and arduous diagnostic odyssey that delays proper treatment. It is UCLA’s mission to continue to drive down the cost of exome sequencing, increasing access and improving patient outcomes one family and one sequence at a time.