Dr. Zoghbi and her lab discovered that mutations in the X-linked encoding methyl CpG-binding protein2 (MECP2) cause Rett syndrome (Amir, 1999). This was a major breakthrough for the research community, as well as for the thousands of families looking for the answer as to why their seemingly normal infant girls were suddenly and inexplicably losing all developmental skills required for daily living somewhere between the ages of 6 – 18 months of age, including speech and hand use, but not dying. In fact, they stabilize although do not outwardly progress significantly and live well into adulthood.
She also discovered that MECP2 mutations are also implicated in autism, mild or severe retardation, bi-polar disorder and even psychosis. Dr. Zoghbi’s laboratory used this information to generate mice carrying a truncating mutation and found that they faithfully reproduce most of the features of Rett syndrome (Shahbazian, 2002). They also generated mice that overexpress MECP2 at twice the normal levels and found that they develop a progressive neurodevelopmental disorder (Collins, 2004).
This led them to propose that duplications of MECP2 might lead to postnatal neurologic disorders, which is proving to be the case. Studies of both mouse models are ongoing to reveal mechanism of pathogenesis in Rett and potential MECP2 targets.
Dr. Zoghbi’s work holds significant promise for solving the mysteries of Rett syndrome and ultimately developing treatments for this devastating disease. Furthermore, her work has wider implications for understanding other rare neurologic disorders. Her tireless work and dedication to the field of Rare Diseases should be held up as an example to all researchers that compassion for patients and dedication to research can and will yield results unimaginable and miraculous.