Aria is a 3 year old girl living with a unique version of mitochondrial disease, caused by a defective gene called LONP1. Faced with losing their child, her parents have developed cureLONP1.com to raise awareness and funds in order to discover treatments.
Devon, UK, 21st June 2024, ZEX PR WIRE, Although estimates vary, mitochondrial disease affects approx. 1 in 5000 people. Aria was born with a mutation in one of her copies of the LONP1 gene which was spontaneous and not inherited, called de novo. Her parents were told that only 2 other children in the global record appear with a similar mutation of LONP1 and they had not survived till their second birthday. Mitochondrial disease has no cure and is life limiting.
Aria’s parents launched the website www.curelonp1.com in an attempt to raise funds for vital research and treatment discovery as they are in a race against time as often children like Aria don’t survive long.
Parent led research and treatment discovery is the new normal, when the patient group is so small. In Aria’s case it is just her, described as N=1. Traditionally, drug companies only target large cohorts which offer a return on their investment in research and development.
Her parents explain that they are super excited to partner with Unravel Biosciences, a Harvard spinout founded by Dr Richard Novak. Unravel offer a bespoke drug repurposing screen which is powered by AI machine learning technology, originally developed by the Wyss Institute for Biologically Inspired Engineering.
Their extensive knowledge spans a range of fields, such as computational drug discovery, innovative animal models, automated drug screening, and entrepreneurship. This diverse expertise is crucial in creating a new paradigm for drug development that lowers costs and reduces risks.
The family need donations in order to access this program which promises to fast track potential drug discovery from known compounds and FDA approved drugs which the AI can model against Aria’s specific gene mutation.
Unravel is just one of the programs Aria’s parents hope to employ if they reach their fund raising targets.
You can discover more about Aria and her cure journey over at www.curelonp1.com. If you are inspired to help Aria find treatment, you can donate if you can and share her story.
Disclaimer: The views, suggestions, and opinions expressed here are the sole responsibility of the experts. No Endowment Lock journalist was involved in the writing and production of this article.