Imagine being a parent of a child who has a rare and mysterious neurological disorder. You’ve traveled around the globe searching for answers. But, after numerous visits with physicians, the mystery remains unsolved.
What seems like a long, unsuccessful quest for answers suddenly ends with a glimmer of hope thanks to remarkable new discoveries emerging from the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s.
Under the leadership of Dr. Huda Zoghbi, a Howard Hughes Medical Institute investigator and founding director of the NRI, she and her team have unlocked the genetic and molecular mysteries behind a number of devastating neurological disorders in children with the ultimate goal of developing treatments to improve their quality of life.
The story of Grace Wilsey is a perfect example.
After a lengthy saga of visiting with physicians across the nation searching for answers about their daughter Grace’s condition, the Wilsey family of San Francisco flew to Houston to meet with Dr. Zoghbi, who helped them find the answer to their child’s perplexing condition.
Dr. Zoghbi examined Grace and recommended a new test called whole genome sequencing that was performed at the Baylor College of Medicine Human Genome Sequencing Center. The collaborative effort between Drs. Zoghbi, Richard Gibbs and Matthew Bainbridge helped identify Grace as the second American child in the world diagnosed with NGLY1 deficiency. The test decoded the DNA sequence of her genome to identify the abnormal gene. The technology helps patients and families understand the cause of neurologic diseases, as well as the risk of recurrence.
Grace is one of the only 17 known children worldwide affected by this rare condition, which is characterized by a mutation in the gene coding for N-glycanase 1, an enzyme that is thought to help recycle defective products from a cellular assembly line. Children who lack this enzyme experience varying degrees of movement disorders, suffer from developmental delays, have liver and gastrointestinal problems and cry without producing tears.
“Kristen and I are so grateful to Drs. Zoghbi, Gibbs and Brainbridge for helping us find a diagnosis for Grace and we are committed to funding research efforts that will lead to a more advanced understanding of this disease and potentially a treatment or cure for Grace and other children who are affected,” said Matt Wilsey, Grace’s father.
Grace’s rare neurological disorder has inspired the Wilsey family to fund researchers at the NRI and the Department of Molecular & Human Genetics at Baylor College of Medicine to study and develop treatments for children with NGLY1 deficiency.
“There is nothing more noble than doing research to help patients,” said Dr. Zoghbi. “Although we have a way to go in the biomedical sciences to really improve the lives of patients with neurological diseases, we are making significant progress.”