A medical zebra is rare a disease, one that is so rare that most doctors
have not encountered a patient with that disease. Having only read about
the disease in a textbook or in the case of many recently defined
diseases, not at all. It is therefore difficult for medical doctors to
diagnose these individuals. The term originates from a popular saying
among clinicians, "when you hear hoofbeats, think horses, not zebras",
meaning that when diagnosing a patient, one should first exclude the
most common causes for a patients symptoms, before looking for rare
causes. While this is a good idea in everyday practice, one must not
forget to make the effort to go "zebra hunting" when the common causes
don't explain the full clinical picture. This is especially important
with the current growth of genetics and personalised medicine.
Due to the rarity of these diseases it is often hard to find a single
resource where these diseases are described in an approachable and
understandable way.
Medical Zebras
is a medical genetics learning platform for medical students and
healthcare workers, with an aim to do just that. Here we provide short
form reviews linking the pathology to the symptoms (when the cause is
known), highlighting the most important features of each disease for
ease of understanding and learning.
As medical genetics is expanding exponentially, it is vital for all
clinicians to learn about the emerging genetic diseases affecting their
populations, which genetic methods are available to aid in diagnosis, as
well as their limitations, and what gene therapies are available. I have
therefore created this website, and plan on expanding it daily to help
health care students and workers learn about medical genetics in a way
that emphasizes understanding rather than rote memorization. I have
tried to make each subject accessible and as short as possible, so that
health care workers and students can make the best of their limited
time.
If you have any particular subject you would like for
me to write about, please contact me: themedicalzebras@gmail.com.
The information provided is for educational purposes only and does not
constitute medical advice.