Earlier this year, the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s Hospital brought together patients, families, physicians, academic and industry scientists, as well as leaders from around the world for the annual MECP2 Duplication syndrome conference. The two-day event (January 30 - February 1) was held in the stunning new auditorium and conference center at the NRI. The conference covered a wide range of topics pertaining to this rare neurological disorder from basic research discoveries to therapeutic interventions to practical tips for parents and families of MECP2 duplication patients.
In 1999, NRI director and neuroscientist, Dr. Huda Zoghbi and her research team made the groundbreaking discovery that mutations which reduce or inactivate methyl-CpG binding protein, MECP2, cause Rett syndrome, a rare neurological disorder that primarily affects young girls typically after the first year of life. Less than six years later, it was found that excess copies of MECP2 gene protein leads to a different neurodevelopmental disorder called the MECP2 duplication syndrome which typically affects boys and is characterized by motor disabilities, speech abnormalities, seizures, progressive spasticity, other developmental delays and is associated with premature death. Thus, MECP2 gene and protein levels in the neurons must be maintained at just the right amount – too much or too little leads to neurological issues.
The conference opened with a warm welcome from Zoghbi, who is also a professor at Baylor College of Medicine and Howard Hughes Medical Institute investigator. “We have a particularly challenging problem at hand – neurons are exquisitely sensitive to the levels of the ‘Goldilocks’ protein, MeCP2. Too much reduction and we risk causing Rett-like symptoms in male patients with MECP2 duplication syndrome. So, we need to proceed with caution to identify therapies that are effective and safe with minimal undesired side effects. The goal of this event is to bring together academic neuroscientists and industry leaders who study MECP2 with neurologists and families who live and experience this condition every day, so we can learn from each another and move faster towards our mission of finding optimal therapies and improving the quality of life for MECP2 duplication patients. We are especially thankful to the support we’ve received from the 401 Project, MECP2 Duplication Syndrome foundation and Rett Syndrome Research Trust through the years,” Zoghbi said.
On the first day of the symposium, the presentation topics ranged from exciting basic science discoveries, to preclinical and translational studies on MECP2 duplication syndrome. The presenters included pediatric neurologists, neuroscientists and scientific experts from prestigious institutions such as Texas Children’s Hospital, Baylor College of Medicine, Vanderbilt University, Children’s Hospital of Philadelphia, Ionis Pharmaceuticals and Rett Syndrome Research Trust. The presentations were designed to be lay-friendly with active participation from the families.
On the second day, the presentations focused on clinical care topics for MECP2 duplication patients. For instance, Texas Children’s pediatric neurologist, Dr. Bernhard Suter, and pediatric gastroenterologist, Dr. Kathleen Motil, presented on motor dysfunction and nutrition issues, which are major daily concerns for these patients and their families. Other topics discussed in this session included assistive devices, sleep medicine and practical tips for MECP2 duplication families.
The conference offered families with ample opportunities to connect with each another, meet and speak with leading neurologists and neuroscientists, schedule clinic appointments, and participate in clinical research studies.
Learn more about Texas Children’s research efforts at the Jan and Dan Duncan Neurological Research Institute and world-class clinical expertise provided at Texas Children’s Rett Center.
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- Detailed summary (PDF)
- Sat Feb 1, 9:30 AM - 9: 55 AM - Rehabilitaiton Interventions in MECP2 Duplocation Syndrome presented by Aloysia Schwabe, MD
- Sat Feb 1, 10:30 AM - 10: 55 AM - Nutrition and Gastroenterology for MECP2 Duplication Syndrome presented by Kathleen J. Motil, MD, PhD
- Sat Feb 1, 11:30 AM - 11:55 AM - Practical Tips for Parents of Children with MECP2 Duplication Syndrome presented by Sherry Sellers Vinson, MD, MEd