Cue the Orchestra
“Dada. Dada. Dada!”
Most parents don’t wait three-and-a-half-years to hear their child say his first word. But NBC Chief Foreign Correspondent Richard Engel and his wife, Mary Forrest, did. And then it happened. Their son, Henry, said “Dada” a few weeks ago—said it clearly and definitively, looking his father straight in the eye as he did.
Henry has a neurological condition caused by a unique mutation of a gene called MECP2, which produces a protein by the same name. The MECP2 protein is like a conductor of the brain’s orchestra. In Henry’s brain, all the instruments of the orchestra are there. All the musicians are there, too. But they don’t know what to do because the conductor isn’t.
Enter Dr. Huda Zoghbi, a world-renowned neurogeneticist and director of the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s Hospital, who leads a team studying Henry’s genes. They are focusing on getting the conductor to the orchestra pit so that Henry’s “Dada” is the first note of the grand symphony that will ultimately be heard.
And it’s not just Henry who will benefit—what the NRI team learns about his genes has potential to help children and adults with a whole host of neurological and neuropsychiatric conditions.
One little boy's DNA brings the promise of a healthy tomorrow for many.
RESEARCH UPDATE | OCTOBER 3, 2018
Henry Engel is a happy, vivacious three-year-old who is also living with a rare medical condition. When Henry was born, he appeared to be a healthy baby, but over time he began to fall behind developmentally. His parents—Richard Engel, chief foreign correspondent for NBC News, and Mary Forrest, a freelance producer—did everything they could to find out what was wrong. At last they found a clue: Henry had a mutation in the MECP2 gene.
MECP2 mutations cause Rett syndrome, a disorder that typically affects girls after their first birthday, robbing them of learned skills and leaving them with cognitive deficits, loss of speech, seizures, and difficulties with a variety of motor skills. The MECP2 gene is on the X chromosome. Because females have two X chromosomes, when they have the MECP2 mutation that causes Rett syndrome, they are partially protected by the other normal copy of the gene.
Because boys have only one X chromosome, MECP2 mutations in them typically cause more severe problems and often premature death—usually before two years of age.
But Henry’s MECP2 mutation is different. In fact, it has never been seen before.