Why Rett
Some causes need more people to know their name.
Rett syndrome is a rare neurological and developmental disorder that most commonly affects girls. It can profoundly affect abilities including communication, purposeful hand use and movement.
For our founder, Rett is not an abstract cause. It is personal. That is why the mission was built into RianaVira from the beginning.
Understanding the condition
What is Rett syndrome?
Rett syndrome is a rare genetic neurological and developmental disorder. It most commonly affects girls, although boys can rarely be affected.
Children with Rett syndrome may first appear to develop as expected, before losing abilities they had gained, such as purposeful hand use, communication or mobility.
Most cases are associated with changes in the MECP2 gene.
Every person with Rett syndrome is different. Abilities, symptoms and support needs can vary widely from one individual to another.
This information is for general awareness and is not medical advice. Please speak to a qualified doctor about any individual situation.
Sources: U.S. National Institute of Neurological Disorders and Stroke (NINDS) · NIH, NICHD · NICHD, phases of Rett syndrome
The India context
Awareness is part of the challenge.
Rare diseases present a particular challenge in India.
The Government of India’s National Policy for Rare Diseases identifies lack of awareness among primary-care physicians as one factor that makes early diagnosis difficult. It also identifies limited awareness of rare diseases among both the general public and the medical fraternity.
Indian researchers continue to study Rett syndrome, including how it is recognised clinically and the MECP2-related genetics behind it. Their work is listed below.
The picture is still incomplete. Rather than publish speculative estimates of how many people in India live with Rett syndrome, RianaVira will focus on something we know matters: helping more people understand that Rett syndrome exists, and pointing them toward credible information.
- National Policy for Rare Diseases, 2021Government of India, Ministry of Health & Family Welfare. See section 2.2, diagnosis of rare diseases.
- Genetic Instability and Disease Progression of Indian Rett Syndrome PatientsGomathi M. et al., Molecular Neurobiology, 2024. Notes that clinicians’ understanding of Rett diagnosis remains limited, and identified Rett patients within a group of children diagnosed with autism.
- MECP2 Mutations in the Rett Syndrome Patients from South IndiaAnitha A. et al., Neurology India, 2022. Studied MECP2 mutations in girls with suspected Rett syndrome in Kerala.
Why research matters
Progress is possible. And incomplete.
In 2023, the U.S. FDA approved trofinetide as the first treatment specifically approved for Rett syndrome.
It was an important development. It is not a cure.
Research continues internationally across several therapeutic approaches, including investigational gene therapies. Investigational means exactly that: these approaches are still being studied, and their safety and effectiveness have not been established.
Because the research landscape changes quickly, we link to organisations that keep it up to date rather than publishing a list that would age.
Credible information
Where to learn more.
- Rett syndromeU.S. National Institute of Neurological Disorders and Stroke
- Rett syndromeNIH, Eunice Kennedy Shriver National Institute of Child Health and Human Development
- FDA approves first treatment for Rett syndromeU.S. Food and Drug Administration, 2023
- Research and treatment pipelineInternational Rett Syndrome Foundation
- National Policy for Rare Diseases, 2021Government of India, Ministry of Health & Family Welfare
Our part
The better RianaVira does, the more it can do.
The mission is part of the company’s economics, not an occasional campaign. More clients bring more reach, and more scale brings more support for research.
10% of proceeds will support Rett syndrome research and awareness initiatives.
- Better commerce
- More clients and reach
- Greater commercial scale
- More funding for Rett research and more people learning what Rett syndrome is