One little boy's DNA brings the promise of a healthy tomorrow for many. 

Today’s research can not only change the future, but give a future to our son Henry and many other children. This work can lead to life-altering progress, and it’s happening right before our eyes.
— Richard Engel, NBC Chief Foreign Correspondent

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.


The Jan and Dan Duncan Neurological Research Institute: A center of pediatric neurological disease research

Soon after the Engels discovered Henry’s MECP2 mutation, they heard about the research of Dr. Huda Zoghbi, director of the Jan and Dan Duncan Neurological Research Institute (NRI). Dr. Zoghbi has devoted her scientific career to finding treatments for Rett syndrome and has made numerous seminal discoveries, including finding that MECP2 mutations cause Rett syndrome.

Dr. Zoghbi established the NRI to advance research into the causes of and treatments for neurological diseases in children. Researchers feel there is no better place to conduct this groundbreaking work. “The NRI provides an amazing environment to do research,” explains Callison Alcott, MD/PhD candidate and NRI researcher. “We have numerous experts in the building studying neurological disease from a wide range of perspectives. All doors are open here. We consult and collaborate constantly, greatly accelerating the rate of discovery.”