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.

 
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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.”

 
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Study of Henry’s MECP2 variation may help these girls

In girls, a mutation in the MECP2 gene causes a condition known as Rett syndrome. Rett syndrome robs girls of learned skills and leaves them with cognitive deficits, loss of speech, and a variety of motor difficulties. Henry’s unique DNA is revealing tantalizing clues for developing potential treatments that may help these girls.

 
  Ashley  was healthy until age 2, when she began to lose her social skills, hand use, and language skills. She was the first patient   Huda Y. Zoghbi, M.D.     saw who has Rett syndrome. Ashley inspired a lifetime of work, and in 1999 Zoghbi, an Investigator with the Howard Hughes Medical Institute, discovered  MECP2  as the cause of Rett syndrome.

Ashley was healthy until age 2, when she began to lose her social skills, hand use, and language skills. She was the first patient Huda Y. Zoghbi, M.D. saw who has Rett syndrome. Ashley inspired a lifetime of work, and in 1999 Zoghbi, an Investigator with the Howard Hughes Medical Institute, discovered MECP2 as the cause of Rett syndrome.

  Kayla  enjoys school, has many friends, and wants to be a fashion model.   NRI research   reassures her family and gives them hope that one day the neural pathways in Kayla’s brain can be restored.

Kayla enjoys school, has many friends, and wants to be a fashion model. NRI research reassures her family and gives them hope that one day the neural pathways in Kayla’s brain can be restored.

  Jasmine  loves running around outdoors and watching cartoons. She’s also a typical teenager who shuts her door to hibernate in exasperation. But for feeding, bathing and everything else,   Jasmine relies on her family  .

Jasmine loves running around outdoors and watching cartoons. She’s also a typical teenager who shuts her door to hibernate in exasperation. But for feeding, bathing and everything else, Jasmine relies on her family.

  Rachael  has a special champion: Country music star Clint Black. The singer-songwriter’s life has been touched by Rett syndrome through his niece who also had the condition and   he raises awareness of the disorder   to help girls like Rachael.

Rachael has a special champion: Country music star Clint Black. The singer-songwriter’s life has been touched by Rett syndrome through his niece who also had the condition and he raises awareness of the disorder to help girls like Rachael.

Amazing research breakthroughs mean hope is on the horizon

At the NRI, our expertise in Rett syndrome has led to several recent important discoveries.

NRI investigations cover a wide spectrum of pediatric and even adult neurological conditions, including some of the world’s most vexing conditions like Alzheimer’s, Parkinson’s and autism.

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World’s largest Rett Center treats children next door to cutting edge labs

Dr. Huda Y. Zoghbi’s lab works hand-in-hand with The Blue Bird Circle Rett Center at Texas Children’s Hospital to provide cutting edge treatment for girls and women with Rett syndrome. The Blue Bird Circle Rett Center is the largest clinic in the world dedicated to the diagnosis, treatment and follow-up care of those with this condition.