We are thrilled to share the news that Dr Omar Mamad, an honorary lecturer at RCSI University of Medicine and Health Sciences and a Research Fellow at FutureNeuro, has successfully secured over €567,000 in funding through the SFI-IRC Pathway programme. This funding will play a pivotal role in expanding his pre-clinical research efforts focused on CDKL5 Deficiency Disorder (CDD).  

Although rare, CDD stands as one of the prevalent forms of genetic epilepsy, impacting approximately 1:40,000 to 1:60,000 live births. This disorder leads to seizures and impaired development in affected children. Current treatment options are limited to symptom management, lacking a direct approach to address the underlying cause. The crux of CDD lies in the loss of function of a gene responsible for producing the CDKL5 enzyme, crucial for phosphorylating proteins by adding an extra phosphate molecule to alter their function. 

We still don’t know a huge amount about why losing this one enzyme is so harmful for the developing brain. Dr Mamad’s research will delve deeper into the mechanisms at play, with a specific emphasis on investigating the landscape of microRNAs (miRNAs) in CDD. This could help to pinpoint novel targets and help to guide the development of new therapies not only for CDD but for other rare brain disorders too. 

 Dr Omar Mamad, project lead, said:  

“We now live in a time of unprecedented opportunities to turn scientific discoveries into better treatments for people living with rare diseases. New data and genetics technologies have resulted in the first transformational new treatments for a handful of rare diseases. This challenges us as a society to accelerate progress so that no disease and no patient is, ultimately, left behind in getting access to safe and effective therapeutics.” 

Dr Mamad also recognises the importance of keeping the person at the heart of his research and has worked closely with the CDKL5 Alliance to raise awareness, understanding and acceptance of CDD and its impact on affected families. 

The SFI SFI-IRC Pathway programme is driven by the goal of shaping Ireland’s future by anticipating what lies ahead, so that the full potential of research for all its people can be realised. In this context, the awarded funding serves a dual purpose – not only supporting the expansion of Dr Mamad’s research but also empowering him to establish his own research team. By providing training to a PhD student, he is not only supporting the next generation of researchers but also advancing research in an area that is currently not well understood.  

Professor David Henshall, Director of FutureNeuro and Professor of Molecular Physiology and Neuroscience at RCSI University of Medicine and Health Sciences said: 

“Rare diseases, with their intricate complexities, demand a unique blend of patience and persistence. Dr Mamad, armed with both, will now embark on a four-year research journey, to investigate CDKL5 Deficiency Disorder. Our gratitude goes to the SFI-IRC Pathway Programme for providing this invaluable opportunity.”