Imagine living with a disease that your doctor has never heard of, or only ever read about as a few sentences in a medical textbook. Imagine it took decades to get a diagnosis, or never getting one at all. Imagine if there were no treatments, no new drugs in clinical trials, and no medical or social services.
For more than 400 million people worldwide, this is their reality. With around 7,000 different rare diseases, they are collectively very common, affecting more people than have diabetes. As we approach the 70th anniversary of Crick and Watson figuring out the double helix structure of DNA, an unprecedented opportunity exists to change this bleak picture at global scale. One that could see sustainable health systems, offer new employment opportunities and deliver better lives for all of us.
One of the most exciting developments in genetics in recent years is the significant decrease in the cost of DNA screening and profiling, which has the potential to revolutionise the way we diagnose and treat rare and undiagnosed genetic conditions and diseases.
