Our Research Approach

An update from our Chief Science Officer

February 5, 2016

In 2015, tremendous progress was made in our efforts to advance Rett syndrome research. This year holds even more promise for Rett syndrome as Rettsyndrome.org continues to fund research programs. As we begin 2016 our research strategy remains consistent – to cover the full spectrum of Rett syndrome research from basic discovery, where ideas begin, to translating discoveries into medicines for future clinical testing and treatments.

Finding a cure for Rett syndrome poses many challenges because it is a complex brain disorder that affects the development of synapses and neural networks that are key to all human functions. An individual’s motor actions, motor responses, and language ability are all dependent on these networks. If we identify ways to build more networks (by forming more synapses), we will need to also identify ways to utilize these new synaptic connections.

Today, the Natural History Study that Rettsyndrome.org participates in includes both boys and girls with Rett syndrome ranging in ages of 1 to over 60 years old. If we want to find the cure, we need to address the wide range of ages in Rett syndrome. Pharmacologic intervention intent on correcting abnormal biology in a 1-2 year old child with Rett syndrome may have a very different result in a child developing motor sensory skills over an adult who has had little or no motor sensory training for long periods of time.

Pharmacologic intervention in a very young child with Rett syndrome may enable the growth of new synapses that allows them the opportunity to develop neural networks that are quickly put in place and establish along normal timelines.

However, this may not be the case with an adult suffering with Rett syndrome. To help adolescents and adults, not only will we have to identify the best pharmacologic approach we will have to define new ways to activate and form neural networks through the use of neuroplasticity.  How to use the very “plastic” nature of the central nervous system to develop that which never developed becomes part of the plan for those who have suffered the ravages of time with Rett syndrome. Developmentally, these challenges are large as we have all seen with friends who have had strokes or who have suffered some form of traumatic brain injury.

To address this age spectrum issue, we have to look at Rett syndrome in two different ways. First, we have undertaken research exploring specific pharmacologic approaches that could contribute to the development of drugs correcting the biology of Rett syndrome. Second, we are engaged in research to develop tools and resources that will help reset the neurological development in Rett syndrome.

Our research focus, therefore, is both on a cure and on ways to rehabilitate the nervous system that never developed properly. To this end, Rettsyndrome.org is proud to announce that our board committed millions of dollars more in 2015 to a strong slate of peer-reviewed research grants and drug trials.

Our groundbreaking efforts would not be possible without you – thank you for your continued support in 2016 to accelerate research.

Steve Kaminsky, PhD
Chief Science Officer