We are launching a new platform dedicated to developing new treatments for rare diseases that affect children. Rare diseases are disorders that affect one in every 2000 people in the general population. Approximately 3.5-5.9% of the population is affected by over 6,000 rare diseases, with 70% occurring primarily in children. Genetic mutations account for over 70% of these cases, with 80% being inheritable.
Living with a rare disease can be highly challenging, particularly if it begins during childhood. However, rare diseases in children do not only harm the child but cause pain for entire families. Parents are forced to watch their children suffer without proper answers as to the cause of their suffering, as there is a lack of diagnosis and treatment despite scientific advances. In addition, rare diseases carry significant ethical burdens for the clinicians who treat the children, as they have to make the difficult decision as to whether or not to continue life support. Stories such as Indi Gregory's shed light on the difficulties faced by parents of critically ill children with rare diseases. Indi was just six months old, with a rare mitochondrial disease, when her parents hoped to convince the High Court in the United Kingdom to continue her life support.
Newborn screening is a crucial tool for early diagnosis of rare diseases. However, due to the high cost and country-specific variations, there is a need to improve access to such screening. In Europe, countries such as Italy and the Netherlands screen newborns for over 40 rare diseases, while Germany and France only screen for six. In the UK, newborns undergo screening for nine rare but severe health conditions.
Developing treatments for rare diseases in children takes work. It is a complex and expensive task that can take several years. Although innovative technologies like antibody therapy, enzyme replacement therapy, gene therapy, and stem cell therapy hold promise in treating several rare diseases, conducting complex clinical trials in children is challenging. As a result, pharmaceutical companies often need more time to invest in producing new therapies for rare diseases. We understand that this can be frustrating for families affected by rare diseases. Our platform, which integrates stem cell research with advanced molecular biology and tissue engineering, aims to help accelerate research and development for children with rare diseases, and we are partnering with leading pharmaceutical companies to find new treatments.
We also aim to raise public awareness about rare diseases, as people living with rare diseases and their struggles often remain invisible to the rest of the world.
We are calling for the participation of family members and parents of children diagnosed with rare diseases to volunteer in our research studies. Together, we can strive to discover a cure that will significantly impact the lives of those affected by these conditions.
You can email us at info@stemnovate.co.uk or send your queries.
Volunteer for mitochondrial research study
References
Somanadhan S, O'Donnell R, Bracken S, McNulty S, Sweeney A, O'Toole D, Rogers Y, Flynn C, Awan A, Baker M, O'Neill A, McAneney H, Gibbs L, Larkin P, Kroll T. Children and young people's experiences of living with rare diseases: An integrative review. J Pediatr Nurs. 2023 Jan-Feb;68:e16-e26. doi: 10.1016/j.pedn.2022.10.014. Epub 2022 Nov 25. PMID: 36443134.
Beckman RA, Antonijevic Z, Ghadessi M, Xu H, Chen C, Liu Y, Tang R. Innovations in Clinical Development in Rare Diseases of Children and Adults: Small Populations and/or Small Patients. Paediatr Drugs. 2022 Nov;24(6):657-669. doi: 10.1007/s40272-022-00538-7. Epub 2022 Oct 15. PMID: 36241954.