Finding a Needle in a Haystack Can be Challenging

The idiom “looking for a needle in a haystack” is often used to denote something exceptionally challenging to find. It is based on the idea that a sewing needle in a pile of dry grass would be hard to find. Indeed, such is the case with many rare diseases which display considerable phenotypic and geograph ical heterogeneity even when traced back to their genetic origin. Collectively, diseases affecting fewer than 1 in 2000 individuals are referred to as rare diseases. It is estimated that up to 300 million people worldwide are afflicted with a rare disease and 80% of these have a genetic origin.

Source: Clinics in Perinatology - January 28, 2020 Category: Perinatology & Neonatology Authors: Lucky Jain Tags: Foreword Source Type: research