Water. Three years ago, on Rare Disease Day 2023, I published a blog post comparing phenotypes to water, existing in three phases: solid, liquid, and vapor. At the time, I was trying to make a simple point. Rare diseases are not defined by their first description, nor only by a checklist of features. They are moving targets. Here is what has changed since then.
Tag Archives: Rare Disease Day
Phenotypes are like water – Rare Disease Day 2023
Phases. Today is Rare Disease Day. I would like to use this opportunity to explain some of the phenotype science that is critical for rare diseases. In contrast to common disorders, rare diseases face an unusual challenge. Once identified, the overall rareness of these condition poses the question of where phenotypes begin and where they end. For rare genetic disorders, is the phenotype of the first individual identified with a rare disease characteristic, or is there a larger spectrum that we should be aware of? Enter the various approaches to phenotype science that aim to decipher the full depth of clinical features associated with rare diseases. In order to understand the various approaches to rare diseases phenotypes, I would like to suggest a somewhat unusual analogy: phenotypes are like water.