Dr Daniela Tropea was among 9 Trinity researchers who won a coveted ‘New Foundations’ award from the Irish Research Council (IRC), announced by the Minister for Further Education, Research, Innovation and Science last week. The IRC said that 55 funded projects aimed to enhance research partnerships with civic society organisations, while a further 22 projects will address global development, north-south reconciliation, our shared island, and police-community relations. Dr Tropea’s research will help the sharing of knowledge around Rett Syndrome. Most people with Rett syndrome, a rare disorder of brain development associated with a genetic mutation in the gene MECP2, are impaired in their ability to speak, walk and breathe. Rett Syndrome affects girls almost exclusively.

Dr Tropea has worked with the Rett Syndrome Association of Ireland (Rett Syndrome Ireland) for several years to increase the awareness of this devastating disease which affects at least 80 patients in Ireland. Speaking about the effects of the disease, Dr Tropea said:

As well as difficulties with basic functions such as speaking, walking and breathing, patients with Rett Syndrome often have hand stereotypies (repetitive movements) and other pathologies, including seizures.”

Dr Tropea is an Associate Professor of psychiatry at the Trinity Translational Medicine Institute and is also affiliated with the Trinity Biomedical Sciences Institute and the Trinity College Institute of Neuroscience. She studies the mechanisms that control the development of the brain and those that are altered in disorders of the brain, including Rett syndrome. As a rare disease, funding which focuses on Irish patients with Rett Syndrome is particularly valuable. This IRC award will support the creation of a data platform to increase the visibility of the Irish patients with Rett Syndrome globally, which will foster collaboration between scientists and clinicians researching this condition. Crucially, studies on Rett Syndrome may also shed light on other disorders. Dr Tropea explains:

For rare diseases it is particularly important to collaborate to reach meaningful results. In addition, the data platform funded by the IRC will increase the visibility of Irish patients with Rett Syndrome, so they can be involved in international studies. Furthermore, as Rett Syndrome is a disorder with a known genetic cause, it is possible to create models to study Rett syndrome and to test candidate treatments. However, many mechanisms that are malfunctioning in this condition are also responsible for other disorders, and therefore the findings of research on Rett syndrome may have a broader application.”

Dr Tropea has worked on Rett Syndrome for more than 15 years, and a candidate treatment she identified with colleagues at Massachusetts Institute of Technology (in a study funded by the National Institute of Health) has recently passed phase three in clinical trial. Whilst there is work to do to improve the efficacy of the drug and make sure it is suitable for all the patients with Rett Syndrome, these results offer real hope for children affected by this condition. In her studies, Dr Tropea has been supported by several foundations including Rett syndrome Ireland, International Rett Syndrome Foundation, Lejeune Foundation, and Rett Syndrome Research Trust. Dr Tropea spoke of her gratitude for the patients and their families:

I would like to thank all the families of the patients with Rett Syndrome. They are wonderful and a great source of inspiration.”

For more information on Dr Tropea’s work, visit https://peoplefinder.tcd.ie/Profile?Username=TROPEAD and for information on Rett syndrome, go to the website of Rett syndrome Ireland: http://rettsyndrome.ie

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