History of Rett Syndrome
Though first identified in the 1960s, Rett syndrome did not receive worldwide recognition as a distinct disorder until 1983. Here, we trace the evolution of Rett syndrome and the groundbreaking discoveries that inform today’s scientists and clinicians working to treat and cure it.
Where We Started
Dr. Andreas Rett (pictured), an Austrian physician, provided the first description of the condition in a German medical journal in 1966. His observations, however, remained relatively unknown until 1983 when Dr. Bengt Hagberg observed similar cases and published the first report in English. The publication named the disorder “Rett syndrome” in honor of Dr. Rett and sparked international attention, establishing it as a recognized neurological disorder.
Through the 1980s and 1990s, diagnostic criteria were developed and research continued, culminating in the landmark discovery of a MECP2 gene mutation as the primary cause of Rett by Dr. Huda Zoghbi’s lab in 1999. This discovery marked a turning point in Rett syndrome research, leading to further studies into gene therapies, symptom management, and ongoing advocacy for affected families.
History of rett
Rett Syndrome Milestones
Since Dr. Andreas Rett’s initial observations, our understanding of Rett syndrome has grown tremendously. IRSF and our founding organizations have been at the forefront of nearly all of these discoveries, funding the research and development of infrastructure that informs advancements today.
Hope for the Future
Less than 5% of the more than 10,000 known rare diseases have an FDA-approved treatment. As of 2023, Rett syndrome is one of them. There are more than 20 other companies in the pipeline actively working to bring additional treatments, when 15 years ago there were none. Research into how Rett syndrome works and how to successfully treat it is advancing more rapidly than ever.
IRSF works tirelessly to expand the Rett clinical network, provide resources that help families navigate the challenges of Rett, and develop the tools industry needs to bring new treatments to market. By investing in innovative therapies and collaborating with global research communities, we’re working toward a future where every individual with Rett syndrome receives comprehensive care and improved treatment options.
Get Involved
Join us in our mission to create a better future for individuals with Rett syndrome. From making a donation to participating in community events, there are many ways you can support our work and make a difference.