Henry is the beautiful young son of Richard Engel, NBC News Chief Foreign Correspondent, and his wife, Mary Forrest. Henry has survived a rare medical condition, but he cannot speak or walk and may face a life of round-the-clock care.
When Henry was an infant and his parents noticed he was falling behind, he underwent numerous medical exams to discover the cause. Ultimately, a genetic test provided the answer. Henry has a mutation in his MECP2 gene.
Dr. Huda Zoghbi, director of the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s Hospital, is a world-renowned neurogeneticist recognized for her MECP2 mutation research that revealed these mutations as the cause of Rett syndrome. This devastating disorder typically affects girls after their first birthday, robbing them of learned skills and leaving them with loss of speech and coordination, motor difficulties and seizures. Henry’s specific mutation, however, has never been seen before.
Engel learned about Zoghbi’s research and contacted her. Now, she and her team are studying Henry’s cells and generating a mouse with his specific mutation. “Today’s research can not only change the future, but give a future to our son Henry and many other children,” Engel said. “This work can lead to life-altering progress, and it’s happening right before our eyes.”
In January this year, Engel and Forrest decided to share Henry’s story on NBC’s Today Show. They have also made a generous gift to support the NRI and Dr. Zoghbi’s MECP2 research — and as a result of the Today Show and the release of Henry’s story on NBC’s morning and evening news and in People magazine, nearly half a million dollars have been raised to support this costly research.
Hope for a therapy
The MECP2 gene is on the X chromosome. Females have two X chromosomes, so when a MECP2 mutation causes Rett syndrome, they are partially protected by the other normal copy of the gene.
Boys, on the other hand, have a single X chromosome. When they have a MECP2 mutation, they suffer more and typically pass away in the first year or two of life. What Dr. Zoghbi and her team discovered about Henry is that he has a partially-functioning MECP2 protein — just not as much of it as healthy people have.
In mice with low levels of MECP2 protein like Henry, adding an extra copy of the gene to increase the amount of MECP2 improves their symptoms. To find treatments to do the same for patients, Zoghbi’s team is taking a multi-pronged approach:
- Testing FDA-approved drugs to see if any increase MECP2 protein levels.
- Reciprocally testing every gene in the genome to find those that regulate MECP2 and that can be targeted by drugs to increase the level of the protein.
- Screening over 1 billion compounds to find drugs that directly bind MECP2 , increasing protein levels and function.
- Stimulating brain cells with implantable electrodes to see if motor function and other features of Rett syndrome improve, having discovered that deep brain stimulation in mice with MECP2 mutations and associated learning deficits caused them to learn just as well as normal mice.
The immediate goal is to help individuals with MECP2 mutations like Henry — and those who have Rett syndrome — by boosting MECP2 protein levels. There is tremendous long-term potential as well for using these strategies to find treatments for many other neurological disorders.
Visit duncannri.org today to support this vital research.