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

Henry Engel is a beautiful child—and the survivor of a rare medical condition. Now, at age two, he cannot walk or speak. When he was an infant and his parents noticed that he was falling behind, Henry underwent numerous medical exams to discover the cause. Ultimately, a genetic test gave an answer: Henry has a mutation in his 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 and coordination, and a variety of motor difficulties.

Among boys, MECP2 mutations cause severe problems and often premature death—but not in Henry. Henry has a unique mutation and milder symptoms. Today, Henry’s mutation is being studied by the very person who discovered that MECP2 mutations cause Rett syndrome: Dr. Huda Zoghbi. Dr. Zoghbi is now using Henry's cells to find treatments for Henry, other boys with MECP2-related disorders, and the multitudes of girls with Rett syndrome.

 
 
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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.