Tuesday, November 25, 2025

Identifying Rare Diseases at Birth

 Last month, a BBC article was published highlighting a baby that had its vision saved by genetic testing. This baby had a rare form of eye cancer called retinoblastoma, and it was only identified through the genetic testing and genetic code analysis of newborns, done through something called, "The Generation Study." The study involves taking blood from a newborn and using it to analyze their genetic code and look for rare and serious conditions that would otherwise take forever to diagnose. In this case, the doctors are very hopeful that because they were able to catch this disease so early, they will also be able to save his vision.

Studies like this are very important for the future of medicine. In the second article, it's states that the program used to test the genetic code of the babies only tests for diseases that both develop in early childhood and have effective treatment options. As modern medicine continues to improve, and scientists look tirelessly to treat more diseases, it' not farfetched to say that there exists a future where we can identify and treat all life-threatening diseases before they can cause harm, using this technology. If we are able to develop treatments for early developmental diseases like retinoblastoma that we don't currently have, then we can give everyone an equal chance at life from birth. If this study and technology is already yielding positive results so early in its lifespan, than there is reason to be optimistic towards a better life for everyone in the future.

Retinoblastoma: MedlinePlus Genetics 

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