News-Medical.Net October 4, 2024
Dr. Liji Thomas, MD

Understanding rare diseases
Precision medicine and rare diseases
Genetic and molecular profiling
Tailoring treatments for rare diseases
Challenges and future directions
References
Further reading

Understanding rare diseases

Rare diseases affect less than 5 people out of 10,000. However, this still amounts to about 7% of the world’s population, with over 10,000 such conditions. Almost all are genetic in origin, with a few being autoimmune or infectious.

Most such patients undergo a diagnostic and therapeutic odyssey involving extensive and prolonged testing and multiple consultations. Only about 5% of rare diseases are currently treatable, the rest being “orphan diseases.” However, precision medicine could provide an answer to this problem.

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Precision medicine and rare diseases

Precision medicine may be described as treatment tailored to the individual...

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